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J Clin Immunol ; 36(3): 187-94, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26931785

ABSTRACT

PURPOSE: X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton's tyrosine kinase (BTK) gene defect. XLA patients have absent or reduced number of peripheral B cells and a profound deficiency in all immunoglobulin isotypes. This multicenter study reports the clinical, immunological and molecular features of Bruton's disease in 40 North African male patients. METHODS: Fifty male out of 63 (male and female) patients diagnosed with serum agammaglobulinemia and non detectable to less than 2% peripheral B cells were enrolled. The search for BTK gene mutations was performed for all of them by genomic DNA amplification and Sanger sequencing. RESULTS: We identified 33 different mutations in the BTK gene in 40 patients including 12 missense mutations, 6 nonsense mutations, 6 splice-site mutations, 5 frameshift, 2 large deletions, one complex mutation and one in-frame deletion. Seventeen of these mutations are novel. This large series shows a lower frequency of XLA among male patients from North Africa with agammaglobulinemia and absent to low B cells compared with other international studies (63.5% vs. 85%). No strong evidence for genotype-phenotype correlation was observed. CONCLUSIONS: This study adds to other reports from highly consanguineous North African populations, showing lower frequency of X-linked forms as compared to AR forms of the same primary immunodeficiency. Furthermore, a large number of novel BTK mutations were identified and could further help identify carriers for genetic counseling.


Subject(s)
Agammaglobulinemia/genetics , Gene Expression , Gene Frequency , Genetic Diseases, X-Linked/genetics , Mutation , Opportunistic Infections/genetics , Protein-Tyrosine Kinases/genetics , Adult , Agammaglobulinaemia Tyrosine Kinase , Agammaglobulinemia/complications , Agammaglobulinemia/diagnosis , Agammaglobulinemia/immunology , Age of Onset , Algeria , Alleles , B-Lymphocytes/immunology , B-Lymphocytes/pathology , Child , Child, Preschool , Genetic Association Studies , Genetic Counseling , Genetic Diseases, X-Linked/complications , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/immunology , Heterozygote , Humans , Infant , Male , Morocco , Opportunistic Infections/complications , Opportunistic Infections/diagnosis , Opportunistic Infections/immunology , Protein-Tyrosine Kinases/immunology , Sequence Analysis, DNA , Tunisia
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