Isfahan University of Medical Sciences Journal of Isfahan Medical School 1027-7595 34 383 2016 07 22 Evaluation of Mutation in B cell Maturation Antigen (BCMA) Gene in Patients with Common Variable Immunodeficiency (CVID) Evaluation of Mutation in B cell Maturation Antigen (BCMA) Gene in Patients with Common Variable Immunodeficiency (CVID) 555 562 14951 FA Mahboobeh Ansari MSc Student, Department of Immunology, School of Medicine AND Student Research Committee, Isfahan University of Medical Sciences, Isfahan, Iran Mazdak Ganjalikhani-Hakemi Assistant Professor, Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Roya Sherkat Associate Professor, Aquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran Abbas Rezaei Professor, Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Reza Yazdani PhD Student, Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Sharifeh Khosravi PhD Student, Department of Genetics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Journal Article 2015 11 17 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. 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. https://jims.mui.ac.ir/article_14951_b47a38d37ff1ee67b87f6c6a33a84145.pdf