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SHR Neuro Cancer Cardio Lipid Metab Microb

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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Co-authors Med Uni Graz: Seidel Markus
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Abstract:: Primary B-cell disorders comprise a heterogeneous group of inherited immunodeficiencies, often associated with autoimmunity causing significant morbidity. The underlying genetic etiology remains elusive in the majority of patients. In this study, we investigated a patient from a consanguineous family suffering from recurrent infections and severe lupuslike autoimmunity. Immunophenotyping revealed progressive decrease of CD19(+) B cells, a defective class switch indicated by low numbers of IgM- and IgG-memory B cells, as well as increased numbers of CD21(low) B cells. Combined homozygosity mapping and exome sequencing identified a biallelic splice-site mutation in protein C kinase δ (PRKCD), causing the absence of the corresponding protein product. Consequently, phosphorylation of myristoylated alanine-rich C kinase substrate was decreased, and mRNA levels of nuclear factor interleukin (IL)-6 and IL-6 were increased. Our study uncovers human PRKCD deficiency as a novel cause of common variable immunodeficiency-like B-cell deficiency with severe autoimmunity.
Find related publications in this database (using NLM MeSH Indexing): Adult -; Antigens, CD19 - immunology; Autoimmunity -; B-Lymphocytes - immunology; Child -; Female -; Humans -; Immunoglobulin G - immunology; Immunoglobulin M - immunology; Immunologic Deficiency Syndromes - genetics; Immunophenotyping -; Male -; Mutation -; Pedigree -; Polymorphism, Single Nucleotide -; Protein Isoforms - genetics; Protein Kinase C-delta - genetics