Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.

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 Bruton's-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.

authors

Abolhassani H,Vitali M,Lougaris V,Giliani S,Parvaneh N,Parvaneh L,Mirminachi B,Cheraghi T,Khazaei H,Mahdaviani SA,Kiaei F,Tavakolinia N,Mohammadi J,Negahdari B,Rezaei N,Hammarstrom L,Plebani A,Aghamohammadi A

doi

10.1586/1744666X.2016.1139451

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

479-86

issue

4

eissn

1744-666X

issn

1744-8409

journal_volume

12

pub_type

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