Asthma Allergy Immunology

Asthma Allergy Immunology

2014, Vol 12, Num, 2     (Pages: 059-069)

The known genetic defects in common variable immunodeficiency

Reyhan KARA 1, Bahar GÖKTÜRK 2, Aynur ACAR 3,

1 Selçuk Üniversitesi İleri Teknoloji Araştırma ve Uygulama Merkezi, Biyoteknoloji Laboratuvarı, Konya, Türkiye
2 Konya Eğitim ve Araştırma Hastanesi, Çocuk Allerji ve İmmünoloji Bilim Dalı, Konya, Türkiye
3 Necmettin Erbakan Üniversitesi Meram Tıp Fakültesi, Tıbbi Genetik Bilim Dalı, Konya, Türkiye

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Common variable immunodeficiency (CVID) is a relatively common form of immunodeficiency disorders which constitutes a mixed group of heterogeneous conditions linked by lack of immune globulin production and primary antibody failure. Recently, it is understood that various monogenic defects determine the variability in phenotype and have roles in the immunopathogenesis of CVID. In this review, the molecular defects related to CVID which are ICOS (inducible co-stimulator), TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor), CD19, MSH5 (MutS Homologue 5 Mutations), BAFF-R (B cell activating factor receptor), CD20, CD81, CD21, LRBA (lipopolysaccharide-responsive beige-like anchor), and their genetic basis were aimed to be reviewed.

Keywords : Common variable immunodeficiency, genetic defects, primary antibody deficiency