Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
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)
Web of Science
PubMed
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- Führende Autor*innen der Med Uni Graz
- Sperl Daniela Ingrid
- Co-Autor*innen der Med Uni Graz
- Benesch Martin
- Lackner Herwig
- Ritter-Sovinz Petra
- Scarpatetti Michael
- Schwarzbraun Thomas
- Schwinger Wolfgang
- Seidel Markus
- Speicher Michael
- Uhrig Sabine
- Urban Ernst-Christian
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- Abstract:
- Two related boys who died from fulminant infectious mononucleosis were diagnosed with X-linked lymphoproliferative disease type 1 (XLP-1). Family screening (n=17) identified 6 female mutation carriers and 2 more XLP-1 patients in whom, despite recurrent infections, agammaglobulinemia, and Hodgkin's Disease, the genetic basis had been unknown; demonstrating that awareness and early genetic testing are crucial to reveal underlying primary immunodeficiencies and improve outcome. Furthermore, XLP should be included routinely in the differential diagnosis of severe hypogammaglobulinemia and/or lymphoma in males.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Agammaglobulinemia - diagnosis
- Child, Preschool -
- DNA Mutational Analysis -
- Epstein-Barr Virus Infections - diagnosis
- Exons - genetics
- Fatal Outcome -
- Genetic Diseases, X-Linked - diagnosis
- Genetic Testing -
- Heterozygote Detection -
- Hodgkin Disease - diagnosis
- Humans -
- Infant -
- Infectious Mononucleosis - diagnosis
- Intellectual Disability - diagnosis
- Intracellular Signaling Peptides and Proteins - genetics
- Lymphohistiocytosis, Hemophagocytic - diagnosis
- Lymphoproliferative Disorders - diagnosis
- Male -
- Meningoencephalitis - complications
- Mutation, Missense -
- Pedigree -
- Young Adult -
- Find related publications in this database (Keywords)
- EBV infection
- lymphoproliferative disease
- primary immunodeficiency
- family screening
- genetic counselling
- hemophagocytic lymphohistiocytosis