** = Publikationen gelistet in SCI/SSCI/Pubmed
** Fekadu-Siebald, J; Salzmann-Manrique, E; Heusel, JR; Willasch, A; Hauck, F; Gonzalez-Granado, LI; Chavoshzadeh, Z; Sharafian, S; Cuntz, F; Baris, S; Finocchi, A; Algeri, M; Sherkat, R; Klaudel-Dreszler, M; Zeidler, C; Bellanné-Chantelot, C; Kindle, G; Beaupain, B; Paillard, C; Seidel, MG; Bader, P; Albert, MH; Neven, B; Donadieu, J; Bakhtiar, S
Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients. A multicenter study by EBMT IEWP.
Blood Adv. 2025;
Doi: 10.1182/bloodadvances.2024014344
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** Fox, TA; Massey, V; Lever, C; Pearce, R; Laurence, A; Grace, S; Oliviero, F; Workman, S; Symes, A; Lowe, DM; Fiaccadori, V; Hough, R; Tadros, S; Burns, SO; Seidel, MG; Carpenter, B; Morris, EC
Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI).
J Clin Immunol. 2025; 45(1): 64
Doi: 10.1007/s10875-024-01854-y
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** Joch, S; Smolle, MA; Kashofer, K; Thüringer, A; Szkandera, J; Benesch, M; El-Heliebi, A; Liegl-Atzwanger, B; Leithner, A; Seidel, MG
New Insights from Long-Term Clinical Use of Circulating Tumor DNA-Based Minimal Residual Disease Monitoring in Translocation-Associated Sarcomas.
Oncol Res Treat. 2025; 48(4):186-196
Doi: 10.1159/000543223
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** Smolle, MA; Seidel, MG; Kashofer, K; Liegl-Atzwanger, B; Sadoghi, P; Müller, DA; Leithner, A
Precision medicine in diagnosis, prognosis, and disease monitoring of bone and soft tissue sarcomas using liquid biopsy: a systematic review.
Arch Orthop Trauma Surg. 2025; 145(1): 121
Doi: 10.1007/s00402-024-05711-w
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** Fox, TA; Massey, V; Lever, C; Pearce, R; Laurence, A; Grace, S; Oliviero, F; Workman, S; Symes, A; Lowe, DM; Fiaccadori, V; Hough, R; Tadros, S; Burns, SO; Seidel, MG; Carpenter, B; Morris, EC
Correction to: Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI).
J Clin Immunol. 2025; 45(1):95
Doi: 10.1007/s10875-025-01893-z
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** Erlacher, M; Andresen, F; Sukova, M; Stary, J; De, Moerloose, B; Bosch, JVWT; Dworzak, M; Seidel, MG; Polychronopoulou, S; Beier, R; Kratz, CP; Nathrath, M; Frühwald, MC; Göhring, G; Bergmann, AK; Mayerhofer, C; Lebrecht, D; Ramamoorthy, S; Yoshimi, A; Strahm, B; Wlodarski, MW; Niemeyer, CM
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.
Haematologica. 2024; 109(2):422-430
Doi: 10.3324/haematol.2023.283591
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** Hägele, P; Staus, P; Scheible, R; Uhlmann, A; Heeg, M; Klemann, C; Maccari, ME; Ritterbusch, H; Armstrong, M; Cutcutache, I; Elliott, KS; von, Bernuth, H; Leahy, TR; Leyh, J; Holzinger, D; Lehmberg, K; Svec, P; Masjosthusmann, K; Hambleton, S; Jakob, M; Sparber-Sauer, M; Kager, L; Puzik, A; Wolkewitz, M; Lorenz, MR; Schwarz, K; Speckmann, C; Rensing-Ehl, A; Ehl, S, , ALPID, study, group
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Lancet Haematol. 2024; 11(2): e114-e126.
Doi: 10.1016/S2352-3026(23)00362-9
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** Karbiener, M; Kindle, G; Meyts, I; Seppänen, MRJ; Candotti, F; Kamieniak, M; Ilk, R; Kreil, TR; Seidel, MG, , ESID‐COVID, Consortium
Clinical efficacy of SARS-CoV-2 Omicron-neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency.
J Med Virol. 2024; 96(6):e29738
Doi: 10.1002/jmv.29738
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** Patel, PK; Chinga, ML; Yilmaz, M; Joychan, S; Ujhazi, B; Ellison, M; Gordon, S; Nieves, D; Csomos, K; Eslin, D; Afify, ZA; Meznarich, J; Bohnsack, J; Walkovich, K; Seidel, MG; Sharapova, S; Boyarchyk, O; Latysheva, E; Tuzankina, I; Shaker, AB; Ayala, I; Sriaroon, P; Westermann-Clark, E; Walter, JE
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol. 2024; 44(2): 42
Doi: 10.1007/s10875-023-01607-3
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** Rensing-Ehl, A; Lorenz, MR; Führer, M; Willenbacher, W; Willenbacher, E; Sopper, S; Abinun, M; Maccari, ME; König, C; Haegele, P; Fuchs, S; Castro, C; Kury, P; Pelle, O; Klemann, C; Heeg, M; Thalhammer, J; Wegehaupt, O; Fischer, M; Goldacker, S; Schulte, B; Biskup, S; Chatelain, P; Schuster, V; Warnatz, K; Grimbacher, B; Meinhardt, A; Holzinger, D; Oommen, PT; Hinze, T; Hebart, H; Seeger, K; Lehmberg, K; Leahy, TR; Claviez, A; Vieth, S; Schilling, FH; Fuchs, I; Groß, M; Rieux-Laucat, F; Magerus, A; Speckmann, C; Schwarz, K; Ehl, S, , ALPS, study, group
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
J Allergy Clin Immunol. 2023;
Doi: 10.1016/j.jaci.2023.11.006
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** Whalen, J; Chandra, A; Kracker, S; Ehl, S; Seidel, MG; Gulas, I; Dron, L; Velummailum, R; Nagamuthu, C; Liu, S; Tutein, Nolthenius, J; Maccari, ME, , European, Society, for, Immunodeficiencies, (ESID)-APDS, Registry, Working, Party
Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): An externally-controlled study.
Clin Exp Immunol. 2024;
Doi: 10.1093/cei/uxae107
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** Zaninetti, C; Baschin, M; Vater, L; Karastaneva, A; Holzhauer, S; Leinøe, E; Ørslev, Rasmussen, A; Wesche, J; Freyer, C; Seidel, MG; Greinacher, A
Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film.
Br J Haematol. 2024; 204(2):710-714
Doi: 10.1111/bjh.19211
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** Azizi, AA; Baumgartner, AC; Seidel, M; Zobel, J; Ebetsberger-Dachs, G; Zellner, H; Rauscher, C; Birnbacher, R; Pichler, U; Haberlandt, E; Hedrich, C; Berghoff, AS; Gruber, RW; Welponer, T; Hutterer, M; Krottendorfer, K; Pletschko, T; Roehl, C
Neurofibromatosis type 1: screening form for children and adolescents in Austria Consensus paper of the Austrian NF network
MONATSSCHR KINDERH. 2024;
Doi: 10.1007/s00112-024-01955-3
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** Seidel, MG; Hauck, F
Multilayer concept of autoimmune mechanisms and manifestations in inborn errors of immunity: Relevance for precision therapy.
J Allergy Clin Immunol. 2024; 153(3):615-628.e4
Doi: 10.1016/j.jaci.2023.12.022
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** Seidel, MG
Rethinking PIDs: Why the distinction between primary and secondary immune disorders is more frequently relevant than that between inborn and acquired errors of immunity.
J Allergy Clin Immunol. 2024; 153(6): 1543-1545.
Doi: 10.1016/j.jaci.2024.01.018
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** Azizi, AA; Baumgartner, AC; Seidel, M; Zobel, J; Ebetsberger-Dachs, G; Zellner, H; Rauscher, C; Birnbacher, R; Pichler, U; Haberlandt, E; Hedrich, C; Berghoff, AS; Gruber, RW; Welponer, T; Hutterer, M; Krottendorfer, K; Pletschko, T; Roehl, C
Neurofibromatosis type 1: Precautionary questionnaire for children and adolescents in Austria (Apr, 10.1007/s00112-024-01955-3, 2024)
MONATSSCHR KINDERH. 2024;
Doi: 10.1007/s00112-024-01983-z
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** Patel, PK; Chinga, ML; Yilmaz, M; Joychan, S; Ujhazi, B; Ellison, M; Gordon, S; Nieves, D; Csomos, K; Eslin, D; Afify, ZA; Meznarich, J; Bohnsack, J; Walkovich, K; Seidel, MG; Sharapova, S; Boyarchuk, O; Latysheva, E; Tuzankina, I; Shaker, AB; Ayala, I; Sriaroon, P; Westermann-Clark, E; Walter, JE
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol. 2024; 44(3): 72
Doi: 10.1007/s10875-024-01677-x
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** Fox, TA; Massey, V; Lever, C; Pearce, R; Laurence, A; Thomson, K; Grace, S; Oliviero, F; Workman, S; Symes, A; Lowe, DM; Fiaccadori, V; Hough, R; Tadros, S; Burns, SO; Seidel, MG; Ben Carpenter,; Morris, EC
PRE-TRANSPLANT IMMUNE DYSREGULATION PREDICTS FOR POOR OUTCOME FOLLOWING ALLOGENEIC HAEMATOPOIETIC STEM CELL TRANSPLANTATION FOR ADOLESCENTS AND ADULTS WITH INBORN ERRORS OF IMMUNITY (IEI)
BONE MARROW TRANSPL. 2024; 59: 92-92.-50th EBMT Annual Meeting; APR 14-17, 2024; Glasgow, SCOTLAND.
[Oral Communication]
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** Fritsch, M; Plecko, B; Seidel, MG; Verheyen, S; Fröhlich-Reiterer, E
Hybrid closed loop therapy in an infant with postnatal onset of insulin dependent mitochondrial diabetes due to Pearson syndrome
HORM RES PAEDIAT. Abstracts. 2024; 97: 314-314.-50th ISPAD Annual Conference; OCT 16-19, 2024; Lisbon, PORTUGAL.
[Poster]
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** Sperl, D; Benesch, M; Posch, U; Rosskopf, K; Strenger, V; Tschauner, S; Seidel, MG; Schwinger, W
SUCCESSFUL THIRD ALLOGENEIC STEM CELL TRANSPLANTATION FOLLOWING TWO GRAFT REJECTIONS IN A PATIENT WITH CHRONIC GRANULOMATOUS DISEASE AND HEPATIC/PARAPHRENIC ABSCESSES
BONE MARROW TRANSPL. 2024; 59: 416-416.-50th EBMT Annual Meeting; APR 14-17, 2024; Glasgow, SCOTLAND.
[Poster]
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** García-García, A; Pérez, de, Diego, R; Flores, C; Rinchai, D; Solé-Violán, J; Deyà-Martínez, À; García-Solis, B; Lorenzo-Salazar, JM; Hernández-Brito, E; Lanz, AL; Moens, L; Bucciol, G; Almuqamam, M; Domachowske, JB; Colino, E; Santos-Perez, JL; Marco, FM; Pignata, C; Bousfiha, A; Turvey, SE; Bauer, S; Haerynck, F; Ocejo-Vinyals, JG; Lendinez, F; Prader, S; Naumann-Bartsch, N; Pachlopnik, Schmid, J; Biggs, CM; Hildebrand, K; Dreesman, A; Cárdenes, MÁ; Ailal, F; Benhsaien, I; Giardino, G; Molina-Fuentes, A; Fortuny, C; Madhavarapu, S; Conway, DH; Prando, C; Schidlowski, L; Martínez, de, Saavedra, Álvarez, MT; Alfaro, R; Rodríguez, de, Castro, F; Meyts, I; Hauck, F; Puel, A; Bastard, P; Boisson, B; Jouanguy, E; Abel, L; Cobat, A; Zhang, Q; Casanova, JL; Alsina, L; Rodríguez-Gallego, C, , ESID, Registry, Working, Party;COVID, Human, Genetic, Effort
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.
J Exp Med. 2023; 220(5):
Doi: 10.1084/jem.20220170
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** Maccari, ME; Wolkewitz, M; Schwab, C; Lorenzini, T; Leiding, JW; Aladjdi, N; Abolhassani, H; Abou-Chahla, W; Aiuti, A; Azarnoush, S; Baris, S; Barlogis, V; Barzaghi, F; Baumann, U; Bloomfield, M; Bohynikova, N; Bodet, D; Boutboul, D; Bucciol, G; Buckland, MS; Burns, SO; Cancrini, C; Cathébras, P; Cavazzana, M; Cheminant, M; Chinello, M; Ciznar, P; Coulter, TI; D'Aveni, M; Ekwall, O; Eric, Z; Eren, E; Fasth, A; Frange, P; Fournier, B; Garcia-Prat, M; Gardembas, M; Geier, C; Ghosh, S; Goda, V; Hammarström, L; Hauck, F; Heeg, M; Heropolitanska-Pliszka, E; Hilfanova, A; Jolles, S; Karakoc-Aydiner, E; Kindle, GR; Kiykim, A; Klemann, C; Koletsi, P; Koltan, S; Kondratenko, I; Körholz, J; Krüger, R; Jeziorski, E; Levy, R; Le, Guenno, G; Lefevre, G; Lougaris, V; Marzollo, A; Mahlaoui, N; Malphettes, M; Meinhardt, A; Merlin, E; Meyts, I; Milota, T; Moreira, F; Moshous, D; Mukhina, A; Neth, O; Neubert, J; Neven, B; Nieters, A; Nove-Josserand, R; Oksenhendler, E; Ozen, A; Olbrich, P; Perlat, A; Pac, M; Schmid, JP; Pacillo, L; Parra-Martinez, A; Paschenko, O; Pellier, I; Sefer, AP; Plebani, A; Plantaz, D; Prader, S; Raffray, L; Ritterbusch, H; Riviere, JG; Rivalta, B; Rusch, S; Sakovich, I; Savic, S; Scheible, R; Schleinitz, N; Schuetz, C; Schulz, A; Sediva, A; Semeraro, M; Sharapova, SO; Shcherbina, A; Slatter, MA; Sogkas, G; Soler-Palacin, P; Speckmann, C; Stephan, JL; Suarez, F; Tommasini, A; Trück, J; Uhlmann, A; van, Aerde, KJ; van, Montfrans, J; von, Bernuth, H; Warnatz, K; Williams, T; Worth, AJJ; Ip, W; Picard, C; Catherinot, E; Nademi, Z; Grimbacher, B; Forbes, Satter, LR; Kracker, S; Chandra, A; Condliffe, AM; Ehl, S, , European, Society, for, Immunodeficiencies, Registry, Working, Party
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
J Allergy Clin Immunol. 2023; 152(4):984-996.e10
Doi: 10.1016/j.jaci.2023.06.015
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** Scheible, R; Rusch, S; Maccari, ME; Seidel, MG; Ehl, S; Nieters, A; Kindle, G
Json2Xlsx: Extraction and visualization of nested data in a sparse spreadsheet
SOFTW IMPACTS. 2023; 18: 100588
Doi: 10.1016/j.simpa.2023.100588
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** Stapornwongkul, C; Nieters, A; Staus, P; Rusch, S; Delor, A; Baumann, U; Wehrle, J; Boerries, M; Seidel, MG; Grimbacher, B; Kindle, G
Research on Rare Diseases in Germany - The GAIN Registry: a registry for individuals with congenital multi-organ autoimmune diseases.
J Health Monit. 2023; 8(4): 24-30.
Doi: 10.25646/11732
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** Seidel, MG; Brcic, L; Hoefler, G; Hutter, C; Minkov, M; Steffen, LS; Zebisch, A; Benesch, M
Concurrence of a kinase-dead BRAF and an oncogenic KRAS gain-of-function mutation in juvenile xanthogranuloma.
Pediatr Blood Cancer. 2023; 70(4):e30060
Doi: 10.1002/pbc.30060
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** Bakhtiar, S; Kaffenberger, C; Salzmann-Manrique, E; Donhauser, S; Lueck, L; Karaca, NE; Gonzalez-Granado, LI; Hazar, E; Keles, S; Seidel, MG; Fekadu, J; Königs, C; Schubert, R; Bader, P; Huenecke, S
Regulatory B cells in patients suffering from inborn errors of immunity with severe immune dysregulation.
J Autoimmun. 2022; 132:102891
Doi: 10.1016/j.jaut.2022.102891
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** Egg, D; Rump, IC; Mitsuiki, N; Rojas-Restrepo, J; Maccari, ME; Schwab, C; Gabrysch, A; Warnatz, K; Goldacker, S; Patiño, V; Wolff, D; Okada, S; Hayakawa, S; Shikama, Y; Kanda, K; Imai, K; Sotomatsu, M; Kuwashima, M; Kamiya, T; Morio, T; Matsumoto, K; Mori, T; Yoshimoto, Y; Dybedal, I; Kanariou, M; Kucuk, ZY; Chapdelaine, H; Petruzelkova, L; Lorenz, HM; Sullivan, KE; Heimall, J; Moutschen, M; Litzman, J; Recher, M; Albert, MH; Hauck, F; Seneviratne, S; Pachlopnik, Schmid, J; Kolios, A; Unglik, G; Klemann, C; Snapper, S; Giulino-Roth, L; Svaton, M; Platt, CD; Hambleton, S; Neth, O; Gosse, G; Reinsch, S; Holzinger, D; Kim, YJ; Bakhtiar, S; Atschekzei, F; Schmidt, R; Sogkas, G; Chandrakasan, S; Rae, W; Derfalvi, B; Marquart, HV; Ozen, A; Kiykim, A; Karakoc-Aydiner, E; Králíčková, P; de, Bree, G; Kiritsi, D; Seidel, MG; Kobbe, R; Dantzer, J; Alsina, L; Armangue, T; Lougaris, V; Agyeman, P; Nyström, S; Buchbinder, D; Arkwright, PD; Grimbacher, B
Therapeutic options for CTLA-4 insufficiency.
J Allergy Clin Immunol. 2022; 149(2):736-746
Doi: 10.1016/j.jaci.2021.04.039
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** Haimel, M; Pazmandi, J; Heredia, RJ; Dmytrus, J; Bal, SK; Zoghi, S; van, Daele, P; Briggs, TA; Wouters, C; Bader-Meunier, B; Aeschlimann, FA; Caorsi, R; Eleftheriou, D; Hoppenreijs, E; Salzer, E; Bakhtiar, S; Derfalvi, B; Saettini, F; Kusters, MAA; Elfeky, R; Trück, J; Rivière, JG; van, der, Burg, M; Gattorno, M; Seidel, MG; Burns, S; Warnatz, K; Hauck, F; Brogan, P; Gilmour, KC; Schuetz, C; Simon, A; Bock, C; Hambleton, S; de, Vries, E; Robinson, PN; van, Gijn, M; Boztug, K
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol. 2022; 149(1):369-378
Doi: 10.1016/j.jaci.2021.04.033
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** Seidel, MG; Kashofer, K; Moser, T; Thueringer, A; Liegl-Atzwanger, B; Leithner, A; Szkandera, J; Benesch, M; El-Heliebi, A; Heitzer, E
Clinical implementation of plasma cell-free circulating tumor DNA quantification by digital droplet PCR for the monitoring of Ewing sarcoma in children and adolescents.
Front Pediatr. 2022; 10: 926405
Doi: 10.3389/fped.2022.926405
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** Seidel, MG; Tesch, VK; Yang, L; Hauck, F; Horn, AL; Smolle, MA; Quehenberger, F; Benesch, M
The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.
J Clin Immunol. 2022; 42(3):484-498
Doi: 10.1007/s10875-021-01177-2
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** Sperl, D; Lang, P; Benesch, M; Bainschab, A; Urban, C; Wilfing, R; Feuchtinger, T; Döring, M; Seitz, C; Strenger, V; Lackner, H; Seidel, MG; Perwein, T; Handgretinger, R; Sipurzynski, S; Rosskopf, K; Schwinger, W
Immunological recovery following HLA-matched CD3+ TCR αß+/CD19+ depleted hematopoietic stem cell transplantation in children.
Pediatr Transplant. 2022; 26(5):e14285
Doi: 10.1111/petr.14285
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** Yang, L; Booth, C; Speckmann, C; Seidel, MG; Worth, AJJ; Kindle, G; Lankester, AC; Grimbacher, B; Gennery, AR; Seppanen, MRJ; Morris, EC; Burns, SO, , ESID, Clinical, and, Registry, Working, Parties
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.
J Allergy Clin Immunol. 2022; 150(2):456-466
Doi: 10.1016/j.jaci.2021.10.037
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** Penkert, J; Strüwe, FJ; Dutzmann, CM; Doergeloh, BB; Montellier, E; Freycon, C; Keymling, M; Schlemmer, HP; Sänger, B; Hoffmann, B; Gerasimov, T; Blattmann, C; Fetscher, S; Frühwald, M; Hettmer, S; Kordes, U; Ridola, V; Kroiss, Benninger, S; Mastronuzzi, A; Schott, S; Nees, J; Prokop, A; Redlich, A; Seidel, MG; Zimmermann, S; Pajtler, KW; Pfister, SM; Hainaut, P; Kratz, CP
Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.
J Hematol Oncol. 2022; 15(1): 107
Doi: 10.1186/s13045-022-01332-1
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** Seidel, MG; Tesch, VK; Yang, L; Hauck, F; Horn, AL; Smolle, MA; Quehenberger, F; Benesch, M
Correction to: The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.
J CLIN IMMUNOL. 2022; 42(3): 499
Doi: 10.1007/s10875-022-01220-w
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** Andresen, F; Sukova, M; Stary, J; De Moerloose, B; Ten Bosch, JV; Dworzak, M; Seidel, MG; Polychronopoulou, S; Beier, R; Kratz, CP; Nathrath, M; Fruhwald, MC; Gohring, G; Bergmann, AK; Mayerhofer, C; Rotari, N; Lebrecht, D; Ramamoorthy, S; Yoshimi, A; Strahm, B; Wlodarski, MW; Niemeyer, CM; Erlacher, M
Transient Monosomy 7 Is a Rare Event in Young Children with SAMD9L Syndrome
BLOOD. 2022; 140: 8678-8679.
Doi: 10.1182/blood-2022-159221
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** Pazmandi, J; Haimel, M; Mayr, D; Berner, J; Heredia, RJ; Dmytrus, J; Bal, S; Zoghi, S; Van Daele, P; Briggs, T; Wouters, C; Bader-Meunier, B; Aeschlimann, F; Caorsi, R; Eleftheriou, D; Hoppenreijs, E; Salzer, E; Bakhtiar, S; Derfalvi, B; Saettini, F; Kusters, MA; Elfeky, R; Trueck, J; Riviere, J; van der Burg, M; Gattorno, M; Seidel, M; Burns, S; Warnatz, K; Hauck, F; Brogan, P; Hambleton, S; Gilmour, K; Schuetz, C; Simon, A; Bock, C; de Vries, E; Robinson, P; Van Gijn, M; Boztug, K
Curation and Expansion of Human Phenotype Ontology for Inborn Errors of Immunity
J CLIN IMMUNOL. Selected Abstracts from the 13th Annual Meeting of the Clinical Immunology Society. 2022; 42(SUPPL 1):S109-S110.-13th Annual Meeting of the Clinical Immunology Society; MAR 31 - APR 3, 2022; Charlotte, USA.
[Oral Communication]
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** Seidel, M; Tesch, V; Smolle, M; Quehenberger, F; Benesch, M
The IDDA2.1 'aleidoscope' score: Phenotype expression profiling in inborn errors of immunity with immune dysregulation
J CLIN IMMUNOL. Selected Abstracts from the 13th Annual Meeting of the Clinical Immunology Society. 2022; 42(SUPPL 1):S62-S62.-13th Annual Meeting of the Clinical Immunology Society; MAR 31 - APR 3, 2022; Charlotte, USA.
[Oral Communication]
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** Hoenig, M; Roesler, J; Seidel, MG; Albert, MH; Hauck, F; Maecker-Kolhoff, B; Eiz-Vesper, B; Kleinschmidt, K; Debatin, KM; Jacobsen, EM; Furlan, I; Suttorp, M; Schuetz, C; Schulz, AS
Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T Cell Deficiencies.
Transplant Cell Ther. 2021; 27(1):93.e1-93.e8
Doi: 10.1016/j.bbmt.2020.09.037
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** Köhler, S; Gargano, M; Matentzoglu, N; Carmody, LC; Lewis-Smith, D; Vasilevsky, NA; Danis, D; Balagura, G; Baynam, G; Brower, AM; Callahan, TJ; Chute, CG; Est, JL; Galer, PD; Ganesan, S; Griese, M; Haimel, M; Pazmandi, J; Hanauer, M; Harris, NL; Hartnett, MJ; Hastreiter, M; Hauck, F; He, Y; Jeske, T; Kearney, H; Kindle, G; Klein, C; Knoflach, K; Krause, R; Lagorce, D; McMurry, JA; Miller, JA; Munoz-Torres, MC; Peters, RL; Rapp, CK; Rath, AM; Rind, SA; Rosenberg, AZ; Segal, MM; Seidel, MG; Smedley, D; Talmy, T; Thomas, Y; Wiafe, SA; Xian, J; Yüksel, Z; Helbig, I; Mungall, CJ; Haendel, MA; Robinson, PN
The Human Phenotype Ontology in 2021.
Nucleic Acids Res. 2021; 49(D1): D1207-D1217.
Doi: 10.1093/nar/gkaa1043
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** Maccari, ME; Fuchs, S; Kury, P; Andrieux, G; Völkl, S; Bengsch, B; Lorenz, MR; Heeg, M; Rohr, J; Jägle, S; Castro, CN; Groß, M; Warthorst, U; König, C; Fuchs, I; Speckmann, C; Thalhammer, J; Kapp, FG; Seidel, MG; Dückers, G; Schönberger, S; Schütz, C; Führer, M; Kobbe, R; Holzinger, D; Klemann, C; Smisek, P; Owens, S; Horneff, G; Kolb, R; Naumann-Bartsch, N; Miano, M; Staniek, J; Rizzi, M; Kalina, T; Schneider, P; Erxleben, A; Backofen, R; Ekici, A; Niemeyer, CM; Warnatz, K; Grimbacher, B; Eibel, H; Mackensen, A; Frei, AP; Schwarz, K; Boerries, M; Ehl, S; Rensing-Ehl, A
A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS.
J Exp Med. 2021; 218(2):
Doi: 10.1084/jem.20192191
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** Schifferli, A; Heiri, A; Imbach, P; Holzhauer, S; Seidel, MG; Nugent, D; Michel, M; Kühne, T
Misdiagnosed thrombocytopenia in children and adolescents: analysis of the Pediatric and Adult Registry on Chronic ITP.
Blood Adv. 2021; 5(6): 1617-1626.
Doi: 10.1182/bloodadvances.2020003004
[OPEN ACCESS]
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** Thalhammer, J; Kindle, G; Nieters, A; Rusch, S; Seppänen, MRJ; Fischer, A; Grimbacher, B; Edgar, D; Buckland, M; Mahlaoui, N; Ehl, S, , European, Society, for, Immunodeficiencies, Registry, Working, Party
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
J Allergy Clin Immunol. 2021; 148(5):1332-1341.e5
Doi: 10.1016/j.jaci.2021.04.015
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** Wolska-Kusnierz, B; Pastorczak, A; Fendler, W; Wakulinska, A; Dembowska-Baginska, B; Heropolitanska-Pliszka, E; Piątosa, B; Pietrucha, B; Kałwak, K; Ussowicz, M; Pieczonka, A; Drabko, K; Lejman, M; Koltan, S; Gozdzik, J; Styczynski, J; Fedorova, A; Miakova, N; Deripapa, E; Kostyuchenko, L; Krenova, Z; Hlavackova, E; Gennery, AR; Sykora, KW; Ghosh, S; Albert, MH; Balashov, D; Eapen, M; Svec, P; Seidel, MG; Kilic, SS; Tomaszewska, A; Wiesik-Szewczyk, E; Kreins, A; Greil, J; Buechner, J; Lund, B; Gregorek, H; Chrzanowska, K; Mlynarski, W
Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome.
Clin Cancer Res. 2021; 27(2):575-584
Doi: 10.1158/1078-0432.CCR-20-2574
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** Zielen, S; Duecker, RP; Woelke, S; Donath, H; Bakhtiar, S; Buecker, A; Kreyenberg, H; Huenecke, S; Bader, P; Mahlaoui, N; Ehl, S; El-Helou, SM; Pietrucha, B; Plebani, A; van, der, Flier, M; van, Aerde, K; Kilic, SS; Reda, SM; Kostyuchenko, L; McDermott, E; Galal, N; Pignata, C; Pérez, JLS; Laws, HJ; Niehues, T; Kutukculer, N; Seidel, MG; Marques, L; Ciznar, P; Edgar, JDM; Soler-Palacín, P; von, Bernuth, H; Krueger, R; Meyts, I; Baumann, U; Kanariou, M; Grimbacher, B; Hauck, F; Graf, D; Granado, LIG; Prader, S; Reisli, I; Slatter, M; Rodríguez-Gallego, C; Arkwright, PD; Bethune, C; Deripapa, E; Sharapova, SO; Lehmberg, K; Davies, EG; Schuetz, C; Kindle, G; Schubert, R
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
J Clin Immunol. 2021; 41(8):1878-1892
Doi: 10.1007/s10875-021-01090-8
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** Gámez-Díaz, L; Seidel, MG
Different Apples, Same Tree: Visualizing Current Biological and Clinical Insights into CTLA-4 Insufficiency and LRBA and DEF6 Deficiencies.
Front Pediatr. 2021; 9: 662645-662645.
Doi: 10.3389/fped.2021.662645
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** Chan, AY; Leiding, JW; Liu, X; Logan, BR; Burroughs, LM; Allenspach, EJ; Skoda-Smith, S; Uzel, G; Notarangelo, LD; Slatter, M; Gennery, AR; Smith, AR; Pai, SY; Jordan, MB; Marsh, RA; Cowan, MJ; Dvorak, CC; Craddock, JA; Prockop, SE; Chandrakasan, S; Kapoor, N; Buckley, RH; Parikh, S; Chellapandian, D; Oshrine, BR; Bednarski, JJ; Cooper, MA; Shenoy, S; Davila Saldana, BJ; Forbes, LR; Martinez, C; Haddad, E; Shyr, DC; Chen, K; Sullivan, KE; Heimall, J; Wright, N; Bhatia, M; Cuvelier, GDE; Goldman, FD; Meyts, I; Miller, HK; Seidel, MG; Vander Lugt, MT; Bacchetta, R; Weinacht, KG; Andolina, JR; Caywood, E; Chong, H; de la Morena, MT; Aquino, VM; Shereck, E; Walter, JE; Dorsey, MJ; Seroogy, CM; Griffith, LM; Kohn, DB; Puck, JM; Pulsipher, MA; Torgerson, TR
Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.
Front Immunol. 2020; 11: 239-239.
Doi: 10.3389/fimmu.2020.00239
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** Karastaneva, A; Nebral, K; Schlagenhauf, A; Baschin, M; Palankar, R; Juch, H; Heitzer, E; Speicher, MR; Höfler, G; Grigorow, I; Urban, C; Benesch, M; Greinacher, A; Haas, OA; Seidel, MG
Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor.
J Med Genet. 2020; 57(6):427-433
Doi: 10.1136/jmedgenet-2019-106339
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** Passerini, L; Barzaghi, F; Curto, R; Sartirana, C; Barera, G; Tucci, F; Albarello, L; Mariani, A; Testoni, PA; Bazzigaluppi, E; Bosi, E; Lampasona, V; Neth, O; Zama, D; Hoenig, M; Schulz, A; Seidel, MG; Rabbone, I; Olek, S; Roncarolo, MG; Cicalese, MP; Aiuti, A; Bacchetta, R
Treatment with rapamycin can restore regulatory T-cell function in IPEX patients.
J Allergy Clin Immunol. 2020; 145(4):1262-1271
Doi: 10.1016/j.jaci.2019.11.043
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** Seidel, MG
Treatment of immune-mediated cytopenias in patients with primary immunodeficiencies and immune regulatory disorders (PIRDs).
Hematology Am Soc Hematol Educ Program. 2020; 2020(1): 673-679.
Doi: 10.1182/hematology.2020000153
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** Tesch, VK; Abolhassani, H; Shadur, B; Zobel, J; Mareika, Y; Sharapova, S; Karakoc-Aydiner, E; Rivière, JG; Garcia-Prat, M; Moes, N; Haerynck, F; Gonzales-Granado, LI; Santos Pérez, JL; Mukhina, A; Shcherbina, A; Aghamohammadi, A; Hammarström, L; Dogu, F; Haskologlu, S; İkincioğulları, AI; Köstel Bal, S; Baris, S; Kilic, SS; Karaca, NE; Kutukculer, N; Girschick, H; Kolios, A; Keles, S; Uygun, V; Stepensky, P; Worth, A; van Montfrans, JM; Peters, AMJ; Meyts, I; Adeli, M; Marzollo, A; Padem, N; Khojah, AM; Chavoshzadeh, Z; Avbelj Stefanija, M; Bakhtiar, S; Florkin, B; Meeths, M; Gamez, L; Grimbacher, B; Seppänen, MRJ; Lankester, A; Gennery, AR; Seidel, MG; Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
J Allergy Clin Immunol. 2020; 145(5):1452-1463
Doi: 10.1016/j.jaci.2019.12.896
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** Trobisch, A; Marterer, R; Gorkiewicz, G; Flaschberger, S; Lackner, H; Seidel, M; Sperl, D; Karastaneva, A; Kohlmaier, B; Egger, M; Urban, C; Benesch, M; Strenger, V
Invasive mucormycosis during treatment for acute lymphoblastic leukaemia-successful management of two life-threatening diseases.
Support Care Cancer. 2020; 28(5):2157-2161
Doi: 10.1007/s00520-019-04962-3
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** Wustrau, K; Greil, J; Sykora, KW; Albert, MH; Burkhardt, B; Lang, P; Meisel, R; Wössmann, W; Beier, R; Schulz, A; Bader, P; Chada, M; Kühl, JS; Schlegel, PG; Speckmann, C; Gruhn, B; Seidel, M; Wawer, A; Ozga, AK; Janka, G; Ehl, S; Müller, I; Lehmberg, K
Risk factors for mixed chimerism in children with hemophagocytic lymphohistiocytosis after reduced toxicity conditioning.
Pediatr Blood Cancer. 2020; 67(9):e28523
Doi: 10.1002/pbc.28523
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** Gasteiger, LM; Robinson, PN; Pazmandi, J; Boztug, K; Seppänen, MRJ; Seidel, MG; Registry Working Party of the European Society for Immunodeficiencies (ESID)
Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.
J Allergy Clin Immunol Pract. 2020; 8(5): 1778-1778.
Doi: 10.1016/j.jaip.2020.02.019
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** Gallon, R; Mühlegger, B; Wenzel, SS; Sheth, H; Hayes, C; Aretz, S; Dahan, K; Foulkes, W; Kratz, CP; Ripperger, T; Azizi, AA; Baris Feldman, H; Chong, AL; Demirsoy, U; Florkin, B; Imschweiler, T; Januszkiewicz-Lewandowska, D; Lobitz, S; Nathrath, M; Pander, HJ; Perez-Alonso, V; Perne, C; Ragab, I; Rosenbaum, T; Rueda, D; Seidel, MG; Suerink, M; Taeubner, J; Zimmermann, SY; Zschocke, J; Borthwick, GM; Burn, J; Jackson, MS; Santibanez-Koref, M; Wimmer, K
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat. 2019; 40(5):649-655
Doi: 10.1002/humu.23721
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** IJspeert, H; van Schouwenburg, PA; Pico-Knijnenburg, I; Loeffen, J; Brugieres, L; Driessen, GJ; Blattmann, C; Suerink, M; Januszkiewicz-Lewandowska, D; Azizi, AA; Seidel, MG; Jacobs, H; van der Burg, M
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.
Front Immunol. 2019; 10: 1913-1913.
Doi: 10.3389/fimmu.2019.01913
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** Resch, B; Eber, E; Ehringer-Schetitska, D; Kiechl-Kohlendorfer, U; Michel-Behnke, I; Popow-Kraupp, T; Redlberger-Fritz, M; Seidel, M; Strenger, V; Wald, M; Zacharasiewicz, A; Berger, A
Respiratory Syncytial Virus Prophylaxis with Palivizumab 2019 Update of the Recommendations of the Austrian Association of Pediatric and Adolescent Medicine
PADIATR PADOL. 2019;
Doi: 10.1007/s00608-019-00725-9
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** Seidel, MG; Kindle, G; Gathmann, B; Quinti, I; Buckland, M; van Montfrans, J; Scheible, R; Rusch, S; Gasteiger, LM; Grimbacher, B; Mahlaoui, N; Ehl, S; ESID Registry Working Party and collaborators
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
J Allergy Clin Immunol Pract. 2019; 7(6):1763-1770
Doi: 10.1016/j.jaip.2019.02.004
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** Karastaneva, A; Klobassa, DS; Minkov, M; Benesch, M; Seidel, MG
Successful Treatment with SCIG of a Child with Refractory Chronic ITP.
J Clin Immunol. 2019; 39(1):19-22
Doi: 10.1007/s10875-018-0583-y
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** Bakhtiar, S; Fekadu, J; Seidel, MG; Gambinieri, E
Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders.
Front Pediatr. 2019; 7: 461-461.
Doi: 10.3389/fped.2019.00461
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** Hauck, F; Gennery, AR; Seidel, MG
Editorial: The Relationship Between Cancer Predisposition and Primary Immunodeficiency
FRONT IMMUNOL. 2019; 10: 1781
Doi: 10.3389/fimmu.2019.01781
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** Seidel, MG
Th Genomic-Landscape of Childhood Cancer and its Implications
MONATSSCHR KINDERH. 2019; 167(9): 751-751.
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** Schwinger, W; Sperl, D; Lackner, H; Perwein, T; Seidel, M; Karastaneva, A; Benesch, M
HEMATOPOIETIC STEM CELL TRANSPLANTATION IN SICKLE CELL DISEASE, EXPERIENCE OF THE PEDIATRIC TRANSPLANT CENTER IN GRAZ
TRANSPL INT. 2019; 32: 20-21.
[Oral Communication]
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** Tesch, VK; Abolhassani, H; Grimbacher, B; Lankaster, A; Gennery, A; Shadur, B; Stepensky, P; Mareika, Y; Sharapova, S; Karakoc-Aydiner, E; Riviere, JG; Garcia-Prat, M; Moes, N; Haerynck, F; Gonzales-Granado, LI; Perez, JLS; Mukhina, A; Aghamohammadi, A; Hammarstrom, L; Dogu, F; Ikinciogullari, AI; Bal, S; Baris, S; Kilic, SS; Karaca, NE; Kutukculer, N; Girschick, H; Kolios, A; Keles, S; Seidel, MG
Treatment forms and clinical course of LPS-Responsive beige-like anchor protein deficiency and introduction of the immune deficiency and -dysregulation activity (=IDDA) score
BONE MARROW TRANSPL. 2019; 54: 98-99.-45th Annual Meeting of the European-Society-for-Blood-and-Marrow-Transplantation (EBMT); MAR 24-27, 2019; Frankfurt, GERMANY.
[Oral Communication]
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** Barzaghi, F; Amaya Hernandez, LC; Neven, B; Ricci, S; Kucuk, ZY; Bleesing, JJ; Nademi, Z; Slatter, MA; Ulloa, ER; Shcherbina, A; Roppelt, A; Worth, A; Silva, J; Aiuti, A; Murguia-Favela, L; Speckmann, C; Carneiro-Sampaio, M; Fernandes, JF; Baris, S; Ozen, A; Karakoc-Aydiner, E; Kiykim, A; Schulz, A; Steinmann, S; Notarangelo, LD; Gambineri, E; Lionetti, P; Shearer, WT; Forbes, LR; Martinez, C; Moshous, D; Blanche, S; Fisher, A; Ruemmele, FM; Tissandier, C; Ouachee-Chardin, M; Rieux-Laucat, F; Cavazzana, M; Qasim, W; Lucarelli, B; Albert, MH; Kobayashi, I; Alonso, L; Diaz De Heredia, C; Kanegane, H; Lawitschka, A; Seo, JJ; Gonzalez-Vicent, M; Diaz, MA; Goyal, RK; Sauer, MG; Yesilipek, A; Kim, M; Yilmaz-Demirdag, Y; Bhatia, M; Khlevner, J; Richmond Padilla, EJ; Martino, S; Montin, D; Neth, O; Molinos-Quintana, A; Valverde-Fernandez, J; Broides, A; Pinsk, V; Ballauf, A; Haerynck, F; Bordon, V; Dhooge, C; Garcia-Lloret, ML; Bredius, RG; Kałwak, K; Haddad, E; Seidel, MG; Duckers, G; Pai, SY; Dvorak, CC; Ehl, S; Locatelli, F; Goldman, F; Gennery, AR; Cowan, MJ; Roncarolo, MG; Bacchetta, R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
J Allergy Clin Immunol. 2018; 141(3):1036-1049
Doi: 10.1016/j.jaci.2017.10.041
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** Hauck, F; Voss, R; Urban, C; Seidel, MG
Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders.
J Allergy Clin Immunol. 2018; 141(1):59-68
Doi: 10.1016/j.jaci.2017.06.009
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** Seidel, MG; Böhm, K; Dogu, F; Worth, A; Thrasher, A; Florkin, B; İkincioğulları, A; Peters, A; Bakhtiar, S; Meeths, M; Stepensky, P; Meyts, I; Sharapova, SO; Gámez-Díaz, L; Hammarström, L; Ehl, S; Grimbacher, B; Gennery, AR; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation
Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation.
J Allergy Clin Immunol. 2018; 141(2):770-775
Doi: 10.1016/j.jaci.2017.04.023
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** Strenger, V; Merth, G; Lackner, H; Aberle, SW; Kessler, HH; Seidel, MG; Schwinger, W; Sperl, D; Sovinz, P; Karastaneva, A; Benesch, M; Urban, C
Malignancy and chemotherapy induced haemophagocytic lymphohistiocytosis in children and adolescents-a single centre experience of 20 years.
Ann Hematol. 2018; 97(6):989-998
Doi: 10.1007/s00277-018-3254-4
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** Tesch, VK; IJspeert, H; Raicht, A; Rueda, D; Dominguez-Pinilla, N; Allende, LM; Colas, C; Rosenbaum, T; Ilencikova, D; Baris, HN; Nathrath, MHM; Suerink, M; Januszkiewicz-Lewandowska, D; Ragab, I; Azizi, AA; Wenzel, SS; Zschocke, J; Schwinger, W; Kloor, M; Blattmann, C; Brugieres, L; van der Burg, M; Wimmer, K; Seidel, MG
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
Front Immunol. 2018; 9: 1506-1506.
Doi: 10.3389/fimmu.2018.01506
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** Bomken, S; van der Werff Ten Bosch, J; Attarbaschi, A; Bacon, CM; Borkhardt, A; Boztug, K; Fischer, U; Hauck, F; Kuiper, RP; Lammens, T; Loeffen, J; Neven, B; Pan-Hammarström, Q; Quinti, I; Seidel, MG; Warnatz, K; Wehr, C; Lankester, AC; Gennery, AR
Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group.
Front Immunol. 2018; 9(75):2912-2912
Doi: 10.3389/fimmu.2018.02912
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** Kindler, O; Quehenberger, F; Benesch, M; Seidel, MG
The Iceberg Map of germline mutations in childhood cancer: focus on primary immunodeficiencies.
Curr Opin Pediatr. 2018; 30(6):855-863
Doi: 10.1097/MOP.0000000000000680
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** Satgé, D; Seidel, MG
The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System.
Front Immunol. 2018; 9(75):3058-3058
Doi: 10.3389/fimmu.2018.03058
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** Schwinger, W; Urban, C; Ulreich, R; Sperl, D; Karastaneva, A; Strenger, V; Lackner, H; Boztug, K; Albert, MH; Benesch, M; Seidel, MG
The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV.
Front Immunol. 2018; 9(94):2554-2554
Doi: 10.3389/fimmu.2018.02554
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** Barzaghi, F; Hernandez, LA; Pai, SY; Neven, B; Locatelli, F; Goldman, F; Seidel, M; Ehl, S; Albert, MH; Dvorak, CC; Carneiro-Sampaio, M; Gennery, A; Cowan, MJ; Roncarolo, MG; Bacchetta, R
Long-Term Treatment Outcome in IPEX Syndrome Patients: An International Multicenter Retrospective Study
BIOL BLOOD MARROW TR. 2018; 24(3):S81-S82.-Blood and Marrow Transplantion Tandem Meetings of the Center-for-International-Blood-and-Marrow-Transplant-Research (CIBMTR) / American-Society-for-Blood-and-Marrow-Transplantation (ASBMT); FEB 21-25, 2018; Salt Lake City, UT.
[Oral Communication]
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** Tesch, VK; Raicht, A; Ijspeert, H; Rueda-Fernandez, D; Colas, C; Kuerten, T; Ilencikova, D; Hezam, I; Feldman, HB; Nathrath, M; Suerink, M; Januszkiewicz-Lewandowska, D; Ragab, I; Azizi, A; Schwinger, W; Vanderburg, M; Brugieres, L; Wimmer, K; Seidel, MG
No clinical signs of Hyper-IgM or other relevant primary immunodeficiency syndrome in novel patients with constitutional mismatch repair deficiency (CMMRD)
J CLIN IMMUNOL. 2018; 38(3): 387-387.
[Poster]
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** Ammann, S; Lehmberg, K; Zur Stadt, U; Klemann, C; Bode, SFN; Speckmann, C; Janka, G; Wustrau, K; Rakhmanov, M; Fuchs, I; Hennies, HC; Ehl, S; HLH study of the GPOH
Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.
J Clin Immunol. 2017; 37(8):770-780
Doi: 10.1007/s10875-017-0443-1
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** Kindler, O; Karastaneva, A; Seidel, MG
SIC-reg.org: Management guidelines and registry study for severe immune cytopenias
MONATSSCHR KINDERH. 2017; 165(9): 772-779.
Doi: 10.1007/s00112-017-0325-x
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** Ritter-Sovinz, P; Temming, P; Wackernagel, W; Tarmann, L; Langmann, G; Benesch, M; Lackner, H; Karastaneva, A; Schwinger, W; Seidel, M; Sperl, D; Strenger, V; Sorantin, E; Urban, C
Retinoblastoma. Clinical symptoms, diagnostics and management
MONATSSCHR KINDERH. 2017; 165(9): 764-771.
Doi: 10.1007/s00112-017-0364-3
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** Speckmann, C; Doerken, S; Aiuti, A; Albert, MH; Al-Herz, W; Allende, LM; Scarselli, A; Avcin, T; Perez-Becker, R; Cancrini, C; Cant, A; Di Cesare, S; Finocchi, A; Fischer, A; Gaspar, HB; Ghosh, S; Gennery, A; Gilmour, K; González-Granado, LI; Martinez-Gallo, M; Hambleton, S; Hauck, F; Hoenig, M; Moshous, D; Neven, B; Niehues, T; Notarangelo, L; Picard, C; Rieber, N; Schulz, A; Schwarz, K; Seidel, MG; Soler-Palacin, P; Stepensky, P; Strahm, B; Vraetz, T; Warnatz, K; Winterhalter, C; Worth, A; Fuchs, S; Uhlmann, A; Ehl, S; P-CID study of the Inborn Errors Working Party of the EBMT
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.
J Allergy Clin Immunol. 2017; 139(4):1302-1310
Doi: 10.1016/j.jaci.2016.07.040
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** Klemann, C; Esquivel, M; Magerus-Chatinet, A; Lorenz, MR; Fuchs, I; Neveux, N; Castelle, M; Rohr, J; da Cunha, CB; Ebinger, M; Kobbe, R; Kremens, B; Kollert, F; Gambineri, E; Lehmberg, K; Seidel, MG; Siepermann, K; Voelker, T; Schuster, V; Goldacker, S; Schwarz, K; Speckmann, C; Picard, C; Fischer, A; Rieux-Laucat, F; Ehl, S; Rensing-Ehl, A; Neven, B
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.
Haematologica. 2017; 102(2):e52-e56-e52-e56
Doi: 10.3324/haematol.2016.153411
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** Klobassa, DS; Dworzak, MN; Lanz, S; Skrabl-Baumgartner, A; Beham-Schmid, C; Cerroni, L; Haas, OA; Wlodarski, M; Salzer, U; Lackner, H; Benesch, M; Schwinger, W; Urban, C; Seidel, MG
Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy.
PEDIATR BLOOD CANCER. 2017; 64(12):
Doi: 10.1002/pbc.26724
(- Case Report)
Web of Science
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** Pfajfer, L; Seidel, MG; Houmadi, R; Rey-Barroso, J; Hirschmugl, T; Salzer, E; Antón, IM; Urban, C; Schwinger, W; Boztug, K; Dupré, L
WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly.
Blood. 2017; 130(17):1949-1953
Doi: 10.1182/blood-2017-04-777383
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** Schulze, H; Schlagenhauf, A; Manukjan, G; Beham-Schmid, C; Andres, O; Klopocki, E; König, EM; Haidl, H; Panzer, S; Althaus, K; Muntean, WE; Schwinger, W; Urban, C; Greinacher, A; Bakchoul, T; Seidel, MG
Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.
Haematologica. 2017; 102(9):e375-e378-e375-e378
Doi: 10.3324/haematol.2017.167957
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** Stampfer, L; Sperl, D; Fickert, P; Lackner, H; Sovinz, P; Ofner-Ziegenfuß, L; Strenger, V; Urban, C; Jahnel, J; Seidel, MG
Life-threatening sinusoidal obstruction syndrome after high-dose chemotherapy linked to compound heterozygous mutations in ABCB11.
Pediatr Blood Cancer. 2017; 64(12):
Doi: 10.1002/pbc.26666
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** Smolle, MA; Heitzer, E; Geigl, JB; Al, Kaissi, A; Liegl-Atzwanger, B; Seidel, MG; Holzer, LA; Leithner, A
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.
Pediatr Blood Cancer. 2017; 64(10):
Doi: 10.1002/pbc.26522
(- Case Report)
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** Seidel, MG; Bohm, K; Dogu, F; Worth, A; Thrasher, A; Florkin, B; Ikinciogullari, A; Peters, A; Bakhtiar, S; Meeths, M; Stepensky, P; Meyts, I; Sharapova, SO; Gamez-Diaz, L; Hammarstrom, L; Ehl, S; Grimbacher, B; Gennery, AR
Treatment of LPS-Responsive Beige-Like Anchor Protein (LRBA) deficiency by allogeneic hematopoietic stem cell transplantation: A joint IEWP-EBMT-ESID-PIDTC study
BONE MARROW TRANSPL. 2017; 52: S108-S109.
[Oral Communication]
Web of Science
** Wanz, U; Lackner, H; Schwinger, W; Benesch, M; Sovinz, P; Sperl, D; Seidel, MG; Karastaneva, A; Urban, C; Strenger, V
Co-Administration of Trimethoprim-Sulfamethoxazole during High-Dose Methotrexate - Haematologic Side Effects?
EUR J PEDIATR. 2017; 176(11):1503-1503.
[Poster]
Web of Science
** Seidel, MG
Baby genome screening: paving the way to genetic discrimination?
BMJ. 2017; 358: j3294-j3294.
Doi: 10.1136/bmj.j3294
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** Gámez-Díaz, L; August, D; Stepensky, P; Revel-Vilk, S; Seidel, MG; Noriko, M; Morio, T; Worth, AJ; Blessing, J; Van de Veerdonk, F; Feuchtinger, T; Kanariou, M; Schmitt-Graeff, A; Jung, S; Seneviratne, S; Burns, S; Belohradsky, BH; Rezaei, N; Bakhtiar, S; Speckmann, C; Jordan, M; Grimbacher, B
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
J ALLERGY CLIN IMMUN. 2016; 137(1): 223-230.
Doi: 10.1016/j.jaci.2015.09.025
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** Ghosh, S; Seidel, MG
Editorial: Current Challenges in Immune and Other Acquired Cytopenias of Childhood.
Front Pediatr. 2016; 4(3):3-3
Doi: 10.3389/fped.2016.00003
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** Hartz, B; Marsh, R; Rao, K; Henter, JI; Jordan, M; Filipovich, L; Bader, P; Beier, R; Burkhardt, B; Meisel, R; Schulz, A; Winkler, B; Albert, MH; Greil, J; Karasu, G; Woessmann, W; Corbacioglu, S; Gruhn, B; Holter, W; Kühl, JS; Lang, P; Seidel, MG; Veys, P; Löfstedt, A; Ammann, S; Ehl, S; Janka, G; Müller, I; Lehmberg, K
The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis.
Blood. 2016; 127(25):3281-3290
Doi: 10.1182/blood-2015-12-684498
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** Schatorjé, E; van der Flier, M; Seppänen, M; Browning, M; Morsheimer, M; Henriet, S; Neves, JF; Vinh, DC; Alsina, L; Grumach, A; Soler-Palacin, P; Boyce, T; Celmeli, F; Goudouris, E; Hayman, G; Herriot, R; Förster-Waldl, E; Seidel, M; Simons, A; de Vries, E
Primary immunodeficiency associated with chromosomal aberration - an ESID survey.
Orphanet J Rare Dis. 2016; 11(1):110-110
Doi: 10.1186/s13023-016-0492-1
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** Sipurzynski, J; Fahrner, B; Kerbl, R; Crazzolara, R; Jones, N; Ebetsberger, G; Jauk, B; Strenger, V; Wohlmuther, B; Schwinger, W; Lackner, H; Urban, C; Holter, W; Minkov, M; Kager, L; Benesch, M; Seidel, MG
Management of chronic immune thrombocytopenia in children and adolescents: lessons from an Austrian national cross-sectional study of 81 patients.
Semin Hematol. 2016; 53 Suppl 1:S43-S47
Doi: 10.1053/j.seminhematol.2016.04.013
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** Seidel, MG; Boztug, K; Haas, OA
Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?
J Clin Immunol. 2016; 36(1):6-7
Doi: 10.1007/s10875-015-0218-5
(- Case Report)
[OPEN ACCESS]
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** Schulze, H; Schlagenhauf, A; Manukjan, G; Beham-Schmid, C; Andres, O; Klopocki, E; Konig, EM; Haidl, H; Panzer, S; Althaus, K; Muntean, W; Schwinger, W; Urban, CE; Greinacher, A; Bakchoul, T; Seidel, M
An Autosomal-Recessive GFI1B Mutation Defines the Splice Isoform p37 As Essential for Biogenesis of Functional Human Platelets, but Dispensable for Erythropoiesis
BLOOD. 58th ASH Annual Meeting Abstracts. 2016; 128(22):-58th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH); DEC 03-06, 2016; San Diego, CA.
Doi: 10.1182/blood.V128.22.2644.2644
[Poster]
Web of Science
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** Seidel,MG; Dupre,L; Pfajfer,L; Hirschmugl,T; Ulreich,R; Cimenti,C; Urban,C; Boztug,K; Schwinger,W
Sequential maternal lymphocyte infusions followed by unconditioned TCRab/CD19-depleted peripheral stem cell Transplantation in a Patient with a novel Wiskott-Aldrich-like Syndrome
Transplant International. 2016; 29(suppl4):21-21.-30. Jahrestagung der Österreichischen Gesellschaft für Transplantation, Transfusion und Genetik-Austrotransplant; OCT 19-21,2016; Schladming,AUSTRIA.
[Poster]
Web of Science
** Seidel, MG
Vocation: Univ.-Prof.Dr. Markus G. Seidel Translational Pediatric Hematology and Immunology, has works published, Professor
PADIATR PADOL. 2016; 51(2): 48-48.
Web of Science
** Alkhairy, OK; Perez-Becker, R; Driessen, GJ; Abolhassani, H; van Montfrans, J; Borte, S; Choo, S; Wang, N; Tesselaar, K; Fang, M; Bienemann, K; Boztug, K; Daneva, A; Mechinaud, F; Wiesel, T; Becker, C; Dückers, G; Siepermann, K; van Zelm, MC; Rezaei, N; van der Burg, M; Aghamohammadi, A; Seidel, MG; Niehues, T; Hammarström, L
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
J Allergy Clin Immunol. 2015; 136(3):703-712
Doi: 10.1016/j.jaci.2015.02.022
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** Bode, SF; Ammann, S; Al-Herz, W; Bataneant, M; Dvorak, CC; Gehring, S; Gennery, A; Gilmour, KC; Gonzalez-Granado, LI; Groß-Wieltsch, U; Ifversen, M; Lingman-Framme, J; Matthes-Martin, S; Mesters, R; Meyts, I; van Montfrans, JM; Pachlopnik Schmid, J; Pai, SY; Soler-Palacin, P; Schuermann, U; Schuster, V; Seidel, MG; Speckmann, C; Stepensky, P; Sykora, KW; Tesi, B; Vraetz, T; Waruiru, C; Bryceson, YT; Moshous, D; Lehmberg, K; Jordan, MB; Ehl, S; Inborn Errors Working Party of the EBMT
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.
Haematologica. 2015; 100(7):978-988
Doi: 10.3324/haematol.2014.121608
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** Karastaneva, A; Lanz, S; Wawer, A; Behrends, U; Schindler, D; Dietrich, R; Burdach, S; Urban, C; Benesch, M; Seidel, MG
Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients - A Mere Coincidence?
Front Pediatr. 2015; 3(3):50-50
Doi: 10.3389/fped.2015.00050
[OPEN ACCESS]
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** Lackner, H; Karastaneva, A; Schwinger, W; Benesch, M; Sovinz, P; Seidel, M; Sperl, D; Lanz, S; Haxhija, E; Reiterer, F; Sorantin, E; Urban, CE
Sirolimus for the treatment of children with various complicated vascular anomalies.
Eur J Pediatr. 2015; 174(12):1579-1584
Doi: 10.1007/s00431-015-2572-y
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** Turley, AJ; Gathmann, B; Bangs, C; Bradbury, M; Seneviratne, S; Gonzalez-Granado, LI; Hackett, S; Kutukculer, N; Alachkar, H; Hambleton, S; Ritterbusch, H; Kralickova, P; Marodi, L; Seidel, MG; Dueckers, G; Roesler, J; Huissoon, A; Baxendale, H; Litzman, J; Arkwright, PD
Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe.
J Clin Immunol. 2015; 35(2):199-205
Doi: 10.1007/s10875-015-0137-5
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** Wolska-Kuśnierz, B; Gregorek, H; Chrzanowska, K; Piątosa, B; Pietrucha, B; Heropolitańska-Pliszka, E; Pac, M; Klaudel-Dreszler, M; Kostyuchenko, L; Pasic, S; Marodi, L; Belohradsky, BH; Čižnár, P; Shcherbina, A; Kilic, SS; Baumann, U; Seidel, MG; Gennery, AR; Syczewska, M; Mikołuć, B; Kałwak, K; Styczyński, J; Pieczonka, A; Drabko, K; Wakulińska, A; Gathmann, B; Albert, MH; Skarżyńska, U; Bernatowska, E; Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
J Clin Immunol. 2015; 35(6):538-549
Doi: 10.1007/s10875-015-0186-9
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** Heitzeneder, S; Zeitlhofer, P; Pötschger, U; Nowak, E; Seidel, MG; Hölzl, M; Lawitschka, A; Förster-Waldl, E; Matthes-Martin, S; Heja, D; Haas, OA; Heitger, A
Mannan-binding lectin deficiency attenuates acute GvHD in pediatric hematopoietic stem cell transplantation.
Bone Marrow Transplant. 2015; 50(8):1127-1129
Doi: 10.1038/bmt.2015.81
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** Seidel, MG; Hirschmugl, T; Gamez-Diaz, L; Schwinger, W; Serwas, N; Deutschmann, A; Gorkiewicz, G; Zenz, W; Windpassinger, C; Grimbacher, B; Urban, C; Boztug, K
Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.
J Allergy Clin Immunol. 2015; 135(5):1384-90.e1-1384-90.e8
Doi: 10.1016/j.jaci.2014.10.048
(- Case Report)
[OPEN ACCESS]
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** Kohlmaier, B; Lackner, H; Benesch, M; Pfleger, A; Till, H; Sorantin, E; Sovinz, P; Schwinger, W; Aubell, K; de Boer, M; Roos, D; Demel, U; Sperl, D; Strenger, V; Kerbl, R; Seidel, M; Eber, E; Urban, C
Septic Granulomatosis - a Chameleon: Tumor, Lung Malformation or Immunodeficiency?
WIEN KLIN WOCHENSCHR. 2015; 127(19-20): 808-808.
[Oral Communication]
Web of Science
** Lackner, H; Schwinger, W; Benesch, M; Sovinz, P; Seidel, M; Sperl, D; Lanz, S; Haxhija, E; Reiterer, F; Sorantin, E; Urban, C
SIROLIMUS IN THE TREATMENT OF CHILDREN WITH DIFFERENT COMPLICATED VASCULAR ANOMALIES
PEDIATR BLOOD CANCER. 2015; 62: S355-S356.-47 thAnnual Meeting of the International Society of Pediatrich Oncology; OCT 8-11,2015; Cape Town, SOUTH AFRICA.
[Poster]
Web of Science
** Sperl, D; Wilfing, R; Schwinger, W; Urban, C; Lang, P; Feuchtinger, T; Strenger, V; Benesch, M; Lackner, H; Sovinz, P; Seidel, MG; Handgretinger, R
OUTCOME AND IMMUNE RECONSTITUTION AFTER HLA-IDENTER CD3/19 TCR-alpha/beta DEPLETED HAEMATOPOIETIC STEM CELL IN PEDIATRIC PATIENTS
TRANSPL INT. 2015; 28: 13-14.-29.Tagung der Österr. Ges. f. Transfusion, Transplantation und Genetik AUSTROTRANSPLANT ; OCT 21-24,2015; Kitzbühel,AUSTRIA.
[Oral Communication]
Web of Science
** Seidel, MG
There's no such fool like an immunosenescent fool.
Blood. 2015; 125(5): 741-742.
Doi: 10.1182/blood-2014-12-614149
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** Grimbacher, B; ESID Registry Working Party
The European Society for Immunodeficiencies (ESID) registry 2014.
Clin Exp Immunol. 2014; 178 Suppl 1(47):18-20
Doi: 10.1111/cei.12496
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** Rensing-Ehl, A; Völkl, S; Speckmann, C; Lorenz, MR; Ritter, J; Janda, A; Abinun, M; Pircher, H; Bengsch, B; Thimme, R; Fuchs, I; Ammann, S; Allgäuer, A; Kentouche, K; Cant, A; Hambleton, S; Bettoni da Cunha, C; Huetker, S; Kühnle, I; Pekrun, A; Seidel, MG; Hummel, M; Mackensen, A; Schwarz, K; Ehl, S
Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency.
Blood. 2014; 124(6):851-860
Doi: 10.1182/blood-2014-03-564286
[OPEN ACCESS]
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** Schatorjé, EJ; Gathmann, B; van Hout, RW; de Vries, E; PedPAD consortium
The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database.
Clin Exp Immunol. 2014; 176(3):387-393
Doi: 10.1111/cei.12281
[OPEN ACCESS]
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** Schwinger, W; Sovinz, P; Benesch, M; Lackner, H; Seidel, M; Strenger, V; Sperl, D; Raicht, A; Brunner-Krainz, M; Paschke, E; Plecko, B; Urban, C
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome.
Pediatr Hematol Oncol. 2014; 31(8):723-730
Doi: 10.3109/08880018.2014.939794
Web of Science
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** Seidel, MG; Duerr, C; Woutsas, S; Schwerin-Nagel, A; Sadeghi, K; Neesen, J; Uhrig, S; Santos-Valente, E; Pickl, WF; Schwinger, W; Urban, C; Boztug, K; Förster-Waldl, E
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
J Med Genet. 2014; 51(4):254-63
Doi: 10.1136/jmedgenet-2013-102122
[OPEN ACCESS]
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** Strenger, V; Meinitzer, A; Donnerer, J; Hofer, N; Dornbusch, HJ; Wanz, U; Seidel, MG; Sperl, D; Lackner, H; Schwinger, W; Sovinz, P; Benesch, M; Urban, C
Amphotericin B transfer to CSF following intravenous administration of liposomal amphotericin B.
J Antimicrob Chemother. 2014; 69(9):2522-2526
Doi: 10.1093/jac/dku148
[OPEN ACCESS]
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** Seidel, MG; Urban, C; Sipurzynski, J; Beham-Schmid, C; Lackner, H; Benesch, M
High response rate but short-term effect of romiplostim in paediatric refractory chronic immune thrombocytopenia.
Br J Haematol. 2014; 165(3): 419-421.
Doi: 10.1111/bjh.12766
[OPEN ACCESS]
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** Seidel, MG
Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment.
Blood. 2014; 124(15):2337-2344
Doi: 10.1182/blood-2014-06-583260
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** de Vries, E; Browning, MJ; Neves, JF; Alsina, L; Soler-Palacin, P; Vinh, DC; Grumach, AS; Seidel, MG; Boyce, TG; Celmeli, F; Goudouris, E; Hayman, GR; Herriot, RMJ
Chromosomal Aberrations and Immunodeficiency: First Results of the PID-CS Survey Study
J CLIN IMMUNOL. 2014; 34: S495-S496.
Web of Science
** Fryer, A; Gathmann, B; Bangs, C; Bradbury, M; Seneviratne, S; Azarsiz, E; Alachkar, H; Hambleton, S; Ritterbusch, H; Kralickova, P; Marodi, L; Seidel, M; Dueckers, G; Roesler, J; Huissoon, A; Baxendale, H; Litzman, J; Arkwright, P
Spectrum and Management of Complement Immunodeficiencies (Excluding HAE) Across Europe
J CLIN IMMUNOL. 2014; 34: S478-S479.
Web of Science
** Gamez-Diaz, L; August, D; Kanariou, M; Seneviratne, S; Speckmann, C; Seidel, M; Noriko, M; Morio, T; Jordan, M; Stepensky, P; Grimbacher, B
LRBA Deficiency: Clinical, Immunologic and Genetic Characterization
J CLIN IMMUNOL. 2014; 34: S400-S400.
Web of Science
** Lanz, S; Sovinz, P; Lackner, H; Benesch, M; Seidel, M; Resch, B; Urlesberger, B; Schwinger, W; Urban, C
SUCCESSFUL FOREIGN DONORS-STEM CELL IN CONGENITAL AML FAB M5 WITH T (9,11), INITIAL HYPERLEUKOCYTOSIS CNS-INFECTION AND LEUKEMIA CUTIS
TRANSPL INT. 2014; 27: 4-4.-AUSTROTRANSPLANT ; OCT 15-17, 2014; Bad Ischl, AUSTRIA.
[Poster]
Web of Science
** Rensing-Ehl, A; Volkl, S; Speckmann, C; Lorenz, MR; Ritter, J; Janda, A; Abinun, M; Pircher, H; Bengsch, B; Thimme, R; Fuchs, I; Ammann, S; Allgauer, A; Kentouche, K; Cant, A; Hambleton, S; da Cunha, CB; Huetker, S; Kuhnle, I; Pekrun, A; Seidel, MG; Hummel, M; Mackensen, A; Schwarz, K; Ehl, S
Abnormally Differentiated CD4+OR CD8+T-Cells with Phenotypic and Genetic Features of Double Negative T-Cells in Human FAS Deficiency
J CLIN IMMUNOL. 2014; 34: S165-S165.
Web of Science
** Seidel, MG; Hirschmugl, T; Schwinger, W; Gamez-Diaz, L; Serwas, N; Deutschmann, A; Gorkiewicz, G; Zenz, W; Windpassinger, C; Speicher, M; Grimbacher, B; Urban, C; Boztug, K
Long-Term Continuous Remission After Allogeneic Hematopoietic Stem Cell Transplantation in ALPS/CVID Overlap Syndrome Due to Lipopolysaccharide Responsive Beige-Like Anchor Protein (LRBA) Deficiency
J CLIN IMMUNOL. 2014; 34: S226-S227.-16th Biennial Meeting of the European-Society-for-Immunodeficiencies; OCT 29-NOV 01, 2014; Prague, CZECH REPUBLIC.
[Oral Communication]
Web of Science
** Sperl, D; Schwinger, W; Sovinz, P; Benesch, M; Lackner, H; Seidel, M; Strenger, V; Raicht, A; Brunner-Krainz, M; Paschke, E; Plecko, B; Urban, C
CD3/CD19-DEPLETIERTE AND CD3/TCR-alpha/beta-DEPLETIERTE PERIPHERAL STEM CELL TRANSPLANTATION AFTER CONDITIONING WITH THIOTEPA, FLUDARABINE, TREOSULFAN AND ATG IN CONGENITAL METABOLIC DISORDERS
TRANSPL INT. 2014; 27: 4-4.-Austrotransplant,28. Tagung der Österr. Ges. f. Transplantation, Transfusion und Genetik ; OCT 15-18, 2014; Bad Ischl,AUSTRIA .
[Oral Communication]
Web of Science
** Großekatthöfer, M; Güclü, ED; Lawitschka, A; Matthes-Martin, S; Mann, G; Minkov, M; Peters, C; Seidel, MG
Ferritin concentrations correlate to outcome of hematopoietic stem cell transplantation but do not serve as biomarker of graft-versus-host disease.
Ann Hematol. 2013; 92(8):1121-1128
Doi: 10.1007/s00277-013-1737-x
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** Lackner, H; Seidel, MG; Strenger, V; Sovinz, P; Schwinger, W; Benesch, M; Sperl, D; Urban, C
Hemophagocytic syndrome in children with acute monoblastic leukemia-another cause of fever of unknown origin.
Support Care Cancer. 2013; 21(12):3519-3523
Doi: 10.1007/s00520-013-1937-x
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** Müller, E; Seidel, MG; Lackner, H; Dworzak, M; Urban, C
Acute promyelocytic leukemia complicated by massive intracerebral hemorrhage: safety and efficacy of replacing conventional chemotherapy with arsenic trioxide in an adolescent.
Klin Padiatr. 2013; 225(3):172-173
Doi: 10.1055/s-0033-1334898
(- Case Report)
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** Rensing-Ehl, A; Janda, A; Lorenz, MR; Gladstone, BP; Fuchs, I; Abinun, M; Albert, M; Butler, K; Cant, A; Cseh, AM; Ebinger, M; Goldacker, S; Hambleton, S; Hebart, H; Houet, L; Kentouche, K; Kühnle, I; Lehmberg, K; Mejstrikova, E; Niemeyer, C; Minkov, M; Neth, O; Dückers, G; Owens, S; Rösler, J; Schilling, FH; Schuster, V; Seidel, MG; Smisek, P; Sukova, M; Svec, P; Wiesel, T; Gathmann, B; Schwarz, K; Vach, W; Ehl, S; Speckmann, C
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.
Haematologica. 2013; 98(12):1948-1955
Doi: 10.3324/haematol.2012.081901
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** Salzer, E; Daschkey, S; Choo, S; Gombert, M; Santos-Valente, E; Ginzel, S; Schwendinger, M; Haas, OA; Fritsch, G; Pickl, WF; Förster-Waldl, E; Borkhardt, A; Boztug, K; Bienemann, K; Seidel, MG
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.
Haematologica. 2013; 98(3):473-478
Doi: 10.3324/haematol.2012.068791
[OPEN ACCESS]
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** Salzer, E; Santos-Valente, E; Klaver, S; Ban, SA; Emminger, W; Prengemann, NK; Garncarz, W; Müllauer, L; Kain, R; Boztug, H; Heitger, A; Arbeiter, K; Eitelberger, F; Seidel, MG; Holter, W; Pollak, A; Pickl, WF; Förster-Waldl, E; Boztug, K
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.
Blood. 2013; 121(16):3112-3116
Doi: 10.1182/blood-2012-10-460741
[OPEN ACCESS]
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** Strenger, V; Hofer, N; Rödl, S; Hönigl, M; Raggam, R; Seidel, MG; Dornbusch, HJ; Sperl, D; Lackner, H; Schwinger, W; Sovinz, P; Benesch, M; Urlesberger, B; Urban, C
Age- and gender-related differences in teicoplanin levels in paediatric patients.
J Antimicrob Chemother. 2013; 68(10):2318-2323
Doi: 10.1093/jac/dkt176
[OPEN ACCESS]
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** Strenger, V; Lackner, H; Mayer, R; Sminia, P; Sovinz, P; Mokry, M; Pilhatsch, A; Benesch, M; Schwinger, W; Seidel, M; Sperl, D; Schmidt, S; Urban, C
Incidence and clinical course of radionecrosis in children with brain tumors. A 20-year longitudinal observational study.
Strahlenther Onkol. 2013; 189(9):759-764
Doi: 10.1007/s00066-013-0408-0
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** Seidel, MG; Planitzer, CB; Kreil, TR; Förster-Waldl, E
Tick-borne encephalitis virus vaccine as additional alternative neoantigen for the clinical immunologist's toolbox.
J Allergy Clin Immunol. 2013; 131(2):617-617
Doi: 10.1016/j.jaci.2012.11.029
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** Fazekas, T; Attarbaschi, A; Lawitschka, A; Seidel, M; Pötschger, U; Peters, C; Mann, G; Gadner, H; Matthes-Martin, S
Lethal pulmonary complications after pediatric allogeneic hematopoietic stem cell transplantation.
Pediatr Infect Dis J. 2012; 31(2): 115-119.
Doi: 10.1097/INF.0b013e31823345e5
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** Fazekas, T; Pruckner, N; Lawitschka, A; Seidel, MG; Eickhoff, P; Pötschger, U; Szpfalusi, Z; Gadner, H; Peters, C
Non-atopic IgE and eosinophil cationic protein after allogeneic hematopoietic stem cell transplantation in children.
Ann Hematol. 2012; 91(6):949-956
Doi: 10.1007/s00277-011-1402-1
[OPEN ACCESS]
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** Gathmann, B; Binder, N; Ehl, S; Kindle, G; ESID Registry Working Party
The European internet-based patient and research database for primary immunodeficiencies: update 2011.
Clin Exp Immunol. 2012; 167(3): 479-491.
Doi: 10.1111/j.1365-2249.2011.04542.x
[OPEN ACCESS]
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** Patel, K; Akhter, J; Kobrynski, L; Benjamin Gathmann, MA; Gathman, B; Davis, O; Sullivan, KE; International DiGeorge Syndrome Immunodeficiency Consortium
Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome.
J Pediatr. 2012; 161(5): 950-953.
Doi: 10.1016/j.jpeds.2012.06.018
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** Seidel, MG; Rami, B; Item, C; Schober, E; Zeitlhofer, P; Huber, WD; Heitger, A; Bodamer, OA; Haas, OA
Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.
Eur J Endocrinol. 2012; 167(1):131-134
Doi: 10.1530/EJE-12-0197
(- Case Report)
[OPEN ACCESS]
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** Sperl, D; Benesch, M; Urban, C; Lackner, H; Sovinz, P; Speicher, MR; Uhrig, S; Schwarzbraun, T; Schwinger, W; zur Stadt, U; Beutel, K; Janka, G; Scarpatetti, M; Seidel, MG
Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.
Klin Padiatr. 2012; 224(6):386-389
Doi: 10.1055/s-0032-1323836
(- Case Report)
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** de Vries, E; European Society for Immunodeficiencies (ESID) members
Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update.
Clin Exp Immunol. 2012; 167(1): 108-119.
Doi: 10.1111/j.1365-2249.2011.04461.x
[OPEN ACCESS]
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** Heitzeneder, S; Seidel, M; Förster-Waldl, E; Heitger, A
Mannan-binding lectin deficiency - Good news, bad news, doesn't matter?
Clin Immunol. 2012; 143(1): 22-38.
Doi: 10.1016/j.clim.2011.11.002
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** Rensing-Ehl, A; Janda, A; Vach, W; Gladstone, BP; Abinun, M; Albert, MH; Butler, K; Cant, A; Cseh, A; Ebinger, M; Goldacker, S; Hambleton, S; Hebart, H; Houet, L; Kentouche, K; Kuhnle, I; Lehmberg, K; Mejstrikova, E; Niemeyer, C; Minkov, M; Neth, O; Dueckers, G; Owens, S; Richards, M; Rosler, J; Schilling, FH; Schuster, V; Seidel, MG; Smisek, P; Sukova, M; Svec, P; Wiesel, T; Lorenz, M; Schwarz, K; Ehl, S; Speckmann, C;
WHEN SHOULD THE FAS GENE BE SEQUENCED IN PATIENTS WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY.
J CLIN IMMUNOL. JOURNAL OF CLINICAL IMMUNOLOGY32: 73-74. NEW YORK: SPRINGER/PLENUM PUBLISHERS; ( Presented at: 15th Biennial Meeting European-Society-for-Immunodeficiency (ESID), Florence, ITALY, OCT 03-06, 2012)
[Poster]
Web of Science
** Salzer, E; Daschkey, S; Choo, S; Gombert, M; Santos-Valente, E; Ginzel, S; Schwendinger, M; Haas, OA; Fritsch, G; Pickl, WF; Borkhardt, A; Boztug, K; Bienemann, K; Seidel, MG;
CVID-LIKE DISORDER, EBV-ASSOCIATED LYMPHOPROLIFERATIVE DISEASE AND LIFE-THREATENING LYMPHOMA IN PATIENTS LACKING FUNCTIONAL CD27.
J CLIN IMMUNOL. 2012; 32: 254-254.-15th Biennial Meeting European-Society-for-Immunodeficiency (ESID); OCT 03-06, 2012; Florence, ITALY.
[Oral Communication]
Web of Science
** Seidel, M; Schwinger, W; Lackner, H; Deutschmann, A; Gorkiewicz, G; Speicher, MR; Boztug, K; Urban, EC
Familial multiorgan-autoimmunity syndrome with cytopenia, liver-, and islet cell autoantibodies - a novel inherited immune dysregulation syndrome?
IMMUNOLOGY. 2012; 137: 567-567.
[Poster]
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** Sovinz, P; Schwinger, W; Lackner, H; Benesch, M; Strenger, V; Seidel, M; Urban, C
Treosulfan-based conditioning in 6 pediatric and adolescent patients with non-malignant diseases and haematological malignancies
BONE MARROW TRANSPL. 2012; 47: S384-S384.
[Poster]
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** Seidel, MG
CD27: a new player in the field of common variable immunodeficiency and EBV-associated lymphoproliferative disorder?
J Allergy Clin Immunol. 2012; 129(4):1175; author reply 1175-1175; author reply 1176
Doi: 10.1016/j.jaci.2012.01.053
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** Passerini, L; Di Nunzio, S; Gregori, S; Gambineri, E; Cecconi, M; Seidel, MG; Cazzola, G; Perroni, L; Tommasini, A; Vignola, S; Guidi, L; Roncarolo, MG; Bacchetta, R
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.
Eur J Immunol. 2011; 41(4):1120-1131
Doi: 10.1002/eji.201040909
[OPEN ACCESS]
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** Lawitschka, A; Peters, C; Seidel, MG; Havranek, A; Heitger, A; Fazekas, T; Gueclue, ED; Gadner, H; Matthes-Martin, S
Long-term remission in pediatric Wegener granulomatosis following allo-SCT after reduced-intensity conditioning.
Bone Marrow Transplant. 2011; 46(3):462-463
Doi: 10.1038/bmt.2010.126
[OPEN ACCESS]
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** Pannicke, U; Hönig, M; Schulze, I; Rohr, J; Heinz, GA; Braun, S; Janz, I; Rump, EM; Seidel, MG; Matthes-Martin, S; Soerensen, J; Greil, J; Stachel, DK; Belohradsky, BH; Albert, MH; Schulz, A; Ehl, S; Friedrich, W; Schwarz, K
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
Hum Mutat. 2010; 31(2):197-207
Doi: 10.1002/humu.21168
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** Rensing-Ehl, A; Warnatz, K; Fuchs, S; Schlesier, M; Salzer, U; Draeger, R; Bondzio, I; Joos, Y; Janda, A; Gomes, M; Abinun, M; Hambleton, S; Cant, A; Shackley, F; Flood, T; Waruiru, C; Beutel, K; Siepermann, K; Dueckers, G; Niehues, T; Wiesel, T; Schuster, V; Seidel, MG; Minkov, M; Sirkiä, K; Kopp, MV; Korhonen, M; Schwarz, K; Ehl, S; Speckmann, C
Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency.
Clin Immunol. 2010; 137(3):357-365
Doi: 10.1016/j.clim.2010.08.008
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** Schmetterer, KG; Seidel, MG; Körmöczi, U; Rottal, A; Schwarz, K; Matthes-Martin, S; Steinberger, P; Pickl, WF
Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels.
Int Arch Allergy Immunol. 2010; 152(4):390-400
Doi: 10.1159/000288292
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** Seidel, MG; Grohmann, E; Sadeghi, K; Pollak, A; Heitger, A; Förster-Waldl, E
Vaccination against tick-borne encephalitis virus tests specific IgG production ability in patients under immunoglobulin substitution therapy.
Vaccine. 2010; 28(40):6621-6626
Doi: 10.1016/j.vaccine.2010.07.027
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** Kamizono, S; Duncan, GS; Seidel, MG; Morimoto, A; Hamada, K; Grosveld, G; Akashi, K; Lind, EF; Haight, JP; Ohashi, PS; Look, AT; Mak, TW
Nfil3/E4bp4 is required for the development and maturation of NK cells in vivo.
J Exp Med. 2009; 206(13):2977-2986
Doi: 10.1084/jem.20092176
[OPEN ACCESS]
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** Seidel, MG; Minkov, M; Witt, V; Matthes-Martin, S; Pötschger, U; Worel, N; Leitner, G; Stary, J; Gadner, H; Peters, C
Granulocyte transfusions in children and young adults: does the dose matter?
J Pediatr Hematol Oncol. 2009; 31(3):166-172
Doi: 10.1097/MPH.0b013e318196a6f9
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** Seidel, MG; Fritsch, G; Lion, T; Jürgens, B; Heitger, A; Bacchetta, R; Lawitschka, A; Peters, C; Gadner, H; Matthes-Martin, S
Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation.
Blood. 2009; 113(22):5689-5691
Doi: 10.1182/blood-2009-02-206359
(- Case Report)
[OPEN ACCESS]
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** Attarbaschi, A; Mann, G; Panzer-Grümayer, R; Röttgers, S; Steiner, M; König, M; Csinady, E; Dworzak, MN; Seidel, M; Janousek, D; Möricke, A; Reichelt, C; Harbott, J; Schrappe, M; Gadner, H; Haas, OA
Minimal residual disease values discriminate between low and high relapse risk in children with B-cell precursor acute lymphoblastic leukemia and an intrachromosomal amplification of chromosome 21: the Austrian and German acute lymphoblastic leukemia Berlin-Frankfurt-Munster (ALL-BFM) trials.
J Clin Oncol. 2008; 26(18):3046-3050
Doi: 10.1200/JCO.2008.16.1117
[OPEN ACCESS]
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** Seidel, MG; Peters, C; Wacker, A; Northoff, H; Moog, R; Boehme, A; Silling, G; Grimminger, W; Einsele, H
Randomized phase III study of granulocyte transfusions in neutropenic patients.
Bone Marrow Transplant. 2008; 42(10):679-684
Doi: 10.1038/bmt.2008.237
[OPEN ACCESS]
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** Schmetterer, KG; Seidel, MG; Kormoczi, U; Schwarz, K; Matthes-Martin, S; Steinberger, P; Pickl, WF
Phenotypic and molecular analysis of an HLA Class II deficient patient reveals a homozygous nonsense mutation in the CIITA gene at amino acid position 381
WIEN KLIN WOCHENSCHR. 2008; 120: 12-12.
Web of Science
** Seidel, MG; Heitger, A; Bacchetta, R; Lawitschka, A; Fritsch, G; Lion, T; Passerini, L; Matthes-Martin, S
Minimal CD4+CD25+T-Cell subpopulation-specific donor chimerism after reduced-intensity conditioned hematopoietic stem cell transplantation is sufficient to prevent the manifestation of IPEX Syndrome
CLIN EXP IMMUNOL. 2008; 154: 129-129.
Web of Science
** Seidel, MG; Matthes-Martin, S; Peters, C
BV-lymphoproliferative disease and serotonine syndrome as severe complications of hematopoietic SCT in a patient with severe aplastic anemia
BONE MARROW TRANSPL. 2008; 41: S140-S140.
Web of Science
** Hainz, U; Jürgens, B; Wekerle, T; Seidel, MG; Heitger, A
Indoleamine 2,3-dioxygenase in hematopoietic stem cell transplantation.
Curr Drug Metab. 2007; 8(3):267-272
Doi: 10.2174/138920007780362554
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** Seidel, MG; Ernst, U; Printz, D; Juergens, B; Pichler, J; Attarbaschi, A; Fritsch, G; Gadner, H; Heitger, A
Expression of the putatively regulatory T-cell marker FOXP3 by CD4(+)CD25+ T cells after pediatric hematopoietic stem cell transplantation.
Haematologica. 2006; 91(4): 566-569.
Doi: 10.3324/%25x
[OPEN ACCESS]
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** Peters, C; Seidel, MG; Northoff, H; Moog, R; Boehme, A; Silling, G; Einsele, H; Haas, OA
Granulocyte transfusions for treatment or prophylaxis of severe infections in immunocompromized neutropenic patients - A randomized clinical trial.
BLOOD. 2006; 108(11): 831A-831A.
Doi: 10.1182/blood.V108.11.2934.2934
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** Seidel, MG; Ernst, U; Printz, D; Juergens, B; Pichler, J; Attarbaschi, A; Fritsch, G; Gadner, H; Heitger, A
CD4+CD25+T-cells after paediatric haematopoietic stem cell transplantation express the putative regulatory T-cell marker FOXP3
BONE MARROW TRANSPL. 2006; 37: S213-S213.
Web of Science
** Seidel, MG; Fritsch, G; Matthes-Martin, S; Lawitschka, A; Lion, T; Pötschger, U; Rosenmayr, A; Fischer, G; Gadner, H; Peters, C
Antithymocyte globulin pharmacokinetics in pediatric patients after hematopoietic stem cell transplantation.
J Pediatr Hematol Oncol. 2005; 27(10):532-536
Doi: 10.1097/01.mph.0000184575.00717.25
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** Seidel, MG; Fritsch, G; Matthes-Martin, S; Lawitschka, A; Lion, T; Pötschger, U; Rosenmayr, A; Fischer, G; Gadner, H; Peters, C
In vitro and in vivo T-cell depletion with myeloablative or reduced-intensity conditioning in pediatric hematopoietic stem cell transplantation.
Haematologica. 2005; 90(10): 1405-1414.
Doi: 10.3324/%25x
[OPEN ACCESS]
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** Seidel, MG; Juergens, B; Ernst, U; Printz, D; Gadner, H; Heitger, A
FOXP3 expression in CD4+CD25+T-cells after human haematopoietic stem cell transplantation
BONE MARROW TRANSPL. 2005; 35: S210-S210.
Web of Science
** Seidel, MG; Kastner, U; Minkov, M; Gadner, H
IVIG treatment of adenovirus infection-associated macrophage activation syndrome in a two-year-old boy: case report and review of the literature.
Pediatr Hematol Oncol. 2003; 20(6):445-451
Doi: 10.1080/713842388
(- Case Report)
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** Seidel, MG; Lion, T; Fritsch, G; Gadner, H; Peters, C
Effect of myeloablative vs. non-ablative conditioning, graft T-cell depletion and various pretransplant anti-thymocyte globulin (ATG) regimens on the outcome in 144 pediatric patients.
BLOOD. 2003; 102(11): 478B-478B.
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** Inoue, A; Seidel, MG; Wu, W; Kamizono, S; Ferrando, AA; Bronson, RT; Iwasaki, H; Akashi, K; Morimoto, A; Hitzler, JK; Pestina, TI; Jackson, CW; Tanaka, R; Chong, MJ; McKinnon, PJ; Inukai, T; Grosveld, GC; Look, AT
Slug, a highly conserved zinc finger transcriptional repressor, protects hematopoietic progenitor cells from radiation-induced apoptosis in vivo.
Cancer Cell. 2002; 2(4):279-288
Doi: 10.1016/S1535-6108(02)00155-1
[OPEN ACCESS]
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** Klinger, M; Kudlacek, O; Seidel, MG; Freissmuth, M; Sexl, V
MAP kinase stimulation by cAMP does not require RAP1 but SRC family kinases.
J Biol Chem. 2002; 277(36):32490-32497
Doi: 10.1074/jbc.M200556200
[OPEN ACCESS]
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** Seidel, MG; Look, AT
E2A-HLF usurps control of evolutionarily conserved survival pathways.
Oncogene. 2001; 20(40):5718-5725
Doi: 10.1038/sj.onc.1204591
[OPEN ACCESS]
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** Seidel, MG; Klinger, M; Freissmuth, M; Höller, C
Activation of mitogen-activated protein kinase by the A(2A)-adenosine receptor via a rap1-dependent and via a p21(ras)-dependent pathway.
J Biol Chem. 1999; 274(36):25833-25841
Doi: 10.1074/jbc.274.36.25833
[OPEN ACCESS]
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** Seidel, MG; Freissmuth, M; Pehamberger, H; Micksche, M
Stimulation of natural killer activity in peripheral blood lymphocytes of healthy donors and melanoma patients in vitro: synergism between interleukin (IL)-12 and IL-15 or IL-12 and IL-2.
Naunyn Schmiedebergs Arch Pharmacol. 1998; 358(3):382-389
Doi: 10.1007/PL00005268
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** Seidel, MG; Holler, C; Freissmuth, M
Stimulation of the mitogen activated protein kinase by A(2A)-adenosine receptor expressed in HEK-293- and CHO cells - Possible involvement of a G protein other than G(s)
N-S ARCH PHARMACOL. 1998; 357(4): R54-R54.
Web of Science