Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia - Aix-Marseille Université Access content directly
Journal Articles Clinical Immunology Year : 2015

Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia

Abstract

X linked agammaglobulinemia (XLA) is the first described primary immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent infections, profound decrease of all immunoglobulin isotypes and very low level of B lymphocytes in peripheral blood. The disorder is caused by mutations in the Bruton's Tyrosine Kinase (BTK). Nine male patients suspected to have XLA from nine unrelated families were enrolled in this study. We performed sequencing of the BTK gene in all nine patients, and in the patients' relatives when possible. The XLA diagnosis was confirmed for six patients with six different mutations; we identified a novel mutation (c.1522GN A) and five known mutations. One third of nine unrelated patients do not have mutations in BTK and thus likely suffer from autosomal recessive agammaglobulinemia in the setting of consanguinity. Our results support that the autosomal recessive agammaglobulinemia can be more common in Algeria.
Fichier principal
Vignette du fichier
1-s2.0-S1521661615300449-main.pdf (314.84 Ko) Télécharger le fichier
Origin Files produced by the author(s)
Loading...

Dates and versions

hal-01663628 , version 1 (14-12-2017)

Identifiers

Cite

Soraya Boushaki, Azzedine Tahiat, Yanis Meddour, Koon Wing Chang, Samia Chaib, et al.. Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia. Clinical Immunology, 2015, 161 (2), pp.286-290. ⟨10.1016/j.clim.2015.09.011⟩. ⟨hal-01663628⟩
156 View
375 Download

Altmetric

Share

Gmail Mastodon Facebook X LinkedIn More