Evaluation of mutation in B cell maturation antigen (BCMA) gene in patients with common variable immunodeficiency (CVID)

Abstract

Background: Common variable immune deficiency (CVID) is the commonest symptomatic primary immunodeficiency and represents a heterogenous collection of disorders resulting mostly in antibody deficiency and recurrent infections. The syndrome includes impaired B-cell maturation, impaired somatic hypermutation, reduced numbers of circulating memory and isotype-switched memory B cells, and absent or reduced plasma cells. B cell maturation antigen (BCMA) is a tumor necrosis family receptor superfamily member 17 (TNFRSF17), expressed only on B cell lines, and is essential for survival of long-lived plasma cells. The aim of this study was to evaluate mutations in BCMA in patients with CVID in compare with normal individuals in Isfahan, Iran. Methods: Blood samples were collected from 10 CVID patients with substitutive immunoglobulin therapy before immunoglobulins (Ig) infusion and 10 normal controls in ethylenediaminetetraacetic acid (EDTA) tubes then DNA samples were extracted and after the polymerase chain reaction (PCR) was done, samples were sequenced. Findings: After reviewing the results of the sequence and alignment of the sequences, no mutations in the gene were seen. Conclusion: In addition to the study of mutation in BCMA gene, BCMA gene and protein expression level should be considered to understand more aspects of this disease. © 2016, Isfahan University of Medical Sciences(IUMS). All rights reserved.