Cohort of Iranian Patients With Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects Publisher Pubmed



Abolhassani H^{1, 2} ; Vitali M³ ; Lougaris V³ ; Giliani S³ ; Parvaneh N¹ ; Parvaneh L¹ ; Mirminachi B¹ ; Cheraghi T⁴ ; Khazaei H⁵ ; Mahdaviani SA⁶ ; Kiaei F¹ ; Tavakolinia N¹ ; Mohammadi J⁷ ; Negahdari B⁸ Show All Authors
Source: Expert Review of Clinical Immunology Published:2016

Abstract

Objectives: Impairment in early B-cell development can cause a predominantly antibody deficiency with severe depletion of peripheral B-cells. Mutations in the gene encoding for Brutons-tyrosine-kinase (BTK) and the components of the pre-B-cell receptor complex or downstream signaling molecules have been related to this defect in patients with agammaglobulinemia. Methods: Iranian patients with congenital agammaglobulinemia were included and the correlation between disease-causing mutations and parameters such as clinical and immunologic phenotypes were evaluated in available patients. Results: Out of 87 patients, a molecular investigation was performed on 51 patients leading to identification of 39 cases with BTK (1 novel mutation), 5 cases of μ-heavy chain (3 novel mutations) and 1 case of Igα-deficiencies. Conclusion: Although there is no comprehensive correlation between type of responsible BTK mutation and severity of clinical phenotype, our data suggest that BTK-deficient and autosomal recessive agammaglobulinemia patients differ significantly regarding clinical/immunologic characteristics. © 2016 Taylor & Francis.