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

Abolhassani H1
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
Rezaei N1
Hammarstrom L2
Plebani A3
Aghamohammadi A1


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.


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.


Out of 87 patients, a molecular investigation was performed on 51 patients leading to identification of 39 cases with BTK (1novel mutation), 5 cases of µ-heavy chain (3 novel mutations) and 1 case of Igα-deficiencies.


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.


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Research Center For immunodeficiency

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