title: 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.1522G>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.
authors.affiliation: Immunology Department, Beni Messous Teaching Hospital, Algiers, Algeria; Unit of Genetics, Laboratory of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Sciences and Technology "HouariBoumediene" Algiers, Algeria.
authors.forename: Soraya
authors.initials: S
authors.lastname: Boushaki
authors.affiliation: Immunology Department, Beni Messous Teaching Hospital, Algiers, Algeria.
authors.forename: Azzedine
authors.initials: A
authors.lastname: Tahiat
authors.affiliation: Immunology Department, Central Hospital of the Army, Algiers, Algeria.
authors.forename: Yanis
authors.initials: Y
authors.lastname: Meddour
authors.affiliation: Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Pokfulam, Hong Kong.
authors.forename: Koon Wing
authors.initials: KW
authors.lastname: Chan
authors.affiliation: Immunology Department, Central Hospital of the Army, Algiers, Algeria.
authors.forename: Samia
authors.initials: S
authors.lastname: Chaib
authors.affiliation: Pediatrics Department A, Beni Messous Teaching Hospital, Algiers, Algeria.
authors.forename: Nafissa
authors.initials: N
authors.lastname: Benhalla
authors.affiliation: Pediatrics Department, Bologhine Hospital, Algiers, Algeria.
authors.forename: Leila
authors.initials: L
authors.lastname: Smati
authors.affiliation: Pediatrics Department B, Beni Messous Teaching Hospital, Algiers, Algeria.
authors.forename: Abdellatif
authors.initials: A
authors.lastname: Bensenouci
authors.affiliation: Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Pokfulam, Hong Kong.
authors.forename: Yu-Lung
authors.initials: YL
authors.lastname: Lau
authors.affiliation: Laboratoire de Génétique Médicale et Génomique Fonctionnelle, INSERM UMR S-910, Aix Marseille Université, Faculté de Médecine de la Timone, Marseille, France.
authors.forename: Frédérique
authors.initials: F
authors.lastname: Magdinier
authors.affiliation: Immunology Department, Beni Messous Teaching Hospital, Algiers, Algeria; Laboratory of Immunology, Faculty of Medicine, University of Algiers 1, Algeria. Electronic address: ourtilane@yahoo.fr.
authors.forename: Réda
authors.initials: R
authors.lastname: Djidjik
mesh_terms: D000328:Adult; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000235:genetics*; D000462:Algeria / Q000453:epidemiology; D001402:B-Lymphocytes / Q000378:metabolism*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D007223:Infant; D018655:Lymphocyte Count; D008231:Lymphopenia / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D015995:Prevalence; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: D007136:Immunoglobulins; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human
keywords: Algeria; BTK mutations; X linked agammaglobulinemia; XLA