The Known Genetic Defects in Common Variable Immunodeficiency

Authors

  • Reyhan Kara Laboratory of Biotechnology, Advanced Technology Research and Application Center, Selcuk University, Konya
  • Bahar Göktürk Department of Pediatric Allergy and Immunology, Konya Training and Research Hospital, Konya
  • Aynur Acar Department of Medical Genetic, Faculty of Meram Medicine, Necmettin Erbakan University, Konya

Keywords:

Common variable immunodeficiency, genetic defects, primary antibody deficiency

Abstract

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.

Downloads

Download data is not yet available.

Published

2014-09-15

How to Cite

1.
Kara R, Göktürk B, Acar A. The Known Genetic Defects in Common Variable Immunodeficiency. AAI [Internet]. 2014 Sep. 15 [cited 2022 Jan. 27];12(2):59-6. Available from: https://aai.org.tr/index.php/aai/article/view/121

Issue

Section

Review