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Int J Immunogenet. 2007 Aug;34(4):225-9.

Genetic defects in common variable immunodeficiency.

Author information

1
Second Department of Internal Medicine, Charles University in Prague, Faculty of Medicine, University Hospital, 500 05 Hradec Králové, Czech Republic. kopecky.otakar@fhnk.cz

Abstract

Common variable immunodeficiency (CVID) is the most frequent clinically manifested primary immunodeficiency. According to clinical and laboratory findings, CVID is a heterogeneous group of diseases. Recently, the defects of molecules regulating activation and terminal differentiation of B lymphocytes have been described in some patients with CVID. In this study, we show the overview of deficiencies of inducible costimulator, transmembrane activator and calcium-modulator and cytophilin ligand interactor, CD19 molecules, their genetic basis, pathogenesis and clinical manifestations.

PMID:
17627754
PMCID:
PMC1974825
DOI:
10.1111/j.1744-313X.2007.00681.x
[Indexed for MEDLINE]
Free PMC Article
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