Repository of Research and Investigative Information

Repository of Research and Investigative Information

Zahedan University of Medical Sciences

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

(2016) Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects. Expert Review of Clinical Immunology. pp. 479-486. ISSN 1744666X (ISSN)

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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.

Item Type: Article
Keywords: Autosomal recessive agammaglobulinemia Bruton's tyrosine kinase Genotype-phenotype correlation Long-term cohort X-linked agammaglobulinemia Bruton tyrosine kinase CD79a antigen CD79b antigen Agammaglobulinaemia tyrosine kinase immunoglobulin A immunoglobulin mu chain protein tyrosine kinase adolescent adult agammaglobulinemia Article child female follow up gene gene mutation gene sequence genotype heavy chain human IGHM gene IGLL1 gene Iranian (citizen) major clinical study male mutational analysis phenotype RNA splicing B lymphocyte chromosome disorder cohort analysis dna mutational analysis genetic association study genetics Iran mutation physiology time factor X chromosome linked disorder B-Lymphocytes Chromosome Disorders Cohort Studies Genetic Association Studies Genetic Diseases, X-Linked Immunoglobulin mu-Chains Protein-Tyrosine Kinases Time Factors
Page Range: pp. 479-486
Journal or Publication Title: Expert Review of Clinical Immunology
Journal Index: Scopus
Volume: 12
Number: 4
Identification Number:
ISSN: 1744666X (ISSN)
Depositing User: خانم مهدیه رضائی پور

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