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

Soraya Boushaki; Azzedine Tahiat; Yanis Meddour; Koon Wing Chang; Samia Chaib; Nafissa Benhalla; Leila Smati; Abdellatif Bensenouci; Yu-Lung Lau; Frédérique Magdinier; Réda Djidjik

doi:10.1016/j.clim.2015.09.011

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

Soraya Boushaki ^{1, 2} Azzedine Tahiat ¹ Yanis Meddour Koon Wing Chang ³ Samia Chaib Nafissa Benhalla ¹ Leila Smati Abdellatif Bensenouci ¹ Yu-Lung Lau ³ Frédérique Magdinier ⁴ Réda Djidjik ¹

1 Centre Hospitalo-Universitaire de Béni-Messous

2 USTHB - Université des Sciences et de la Technologie Houari Boumediene [Alger]

3 Department of Pediatrics and Adolescent Medicine

4 GMGF - Génétique Médicale et Génomique Fonctionnelle

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.

Keywords : Algeria X linked agammaglobulinemia XLA BTK mutations

Type de document :

Article dans une revue

Clinical Immunology, Elsevier, 2015, 161 (2), pp.286-290. 〈10.1016/j.clim.2015.09.011〉

Domaine :

Sciences du Vivant [q-bio] / Génétique / Génétique humaine

Sciences du Vivant [q-bio] / Immunologie

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https://hal-amu.archives-ouvertes.fr/hal-01663628
Contributeur : Frederique Magdinier <>
Soumis le : jeudi 14 décembre 2017 - 10:14:21
Dernière modification le : lundi 29 janvier 2018 - 16:48:01

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

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

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