title: Genetic defects and the role of helper T-cells in the pathogenesis of common variable immunodeficiency.
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.
authors.affiliation: Department of Immunology, Faculty of Medicine, Isfahan, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Yazdani
authors.affiliation: Cellular and Molecular Immunology Research Center, Isfahan, Iran ; Department of Immunology, Faculty of Medicine, Isfahan, Iran.
authors.forename: Mazdak Ganjalikhani
authors.initials: MG
authors.lastname: Hakemi
authors.affiliation: Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Roya
authors.initials: R
authors.lastname: Sherkat
authors.affiliation: Department of Immunology, Faculty of Medicine, Isfahan, Iran.
authors.forename: Vida
authors.initials: V
authors.lastname: Homayouni
authors.affiliation: Department of Immunology, Faculty of Medicine, Isfahan, Iran.
authors.forename: Rahim
authors.initials: R
authors.lastname: Farahani
keywords: B-cell activating factor receptor; T-helper-17; common variable immunodeficiency; inducible T-cell co-stimulator; interleukin 9; transmembrane activator and calcium modulator and cyclophilin ligand interactor