Genetic defects and the role of helper T-cells in the pathogenesis of common variable immunodeficiency

Authors
Reza Yazdani 1
Mazdak Ganjalikhani Hakemi 2
Roya Sherkat 3
Vida Homayouni 1
Rahim Farahani 1
1 Department of Immunology, Faculty of Medicine, Isfahan, Iran
2 Department of Immunology, Faculty of Medicine; Cellular and Molecular Immunology Research Center, Isfahan, Iran
3 Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
Abstract
Common variable immunodeficfiiency (CVID) is a primary immunodeficiency syndrome representing a heterogeneous set of disorders resulting mostly in antibody deficiency and recurrent infections. However, inflammatory and autoimmune disorders and some kinds of malignancies are frequently reported as a part of the syndrome. Although it is one of the most widespread primary immunodeficiency, only recently some genetic defects in CVID have been identified. Mutations have been detected in inducible T-cell costimulator (ICOS), transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), B-cell activating factor-receptor (BAFF-R), B-cell receptor complex (CD19, CD21 and CD81) and CD20. On the other hand, recent studies have shown a decrease in T-helper-17 cells frequency and their characteristic cytokines in CVID patients and this emphasis on the vital role of the T-cells in immunopathogenesis of the CVID. Furthermore, in the context of autoimmune diseases accompanying CVID, interleukin 9 has recently attracted a plenty of considerations. However, the list of defects is expanding as exact immunologic pathways and genetic disorders in CVID are not yet defined. In this review, we have a special focus on the immunopathogenesis of CVID, recent advances in understanding the underlying etiology and genetics for patients.

Keywords

 
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