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X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations

Journal of clinical immunology, 2016-04, Vol.36 (3), p.187-194 [Peer Reviewed Journal]

Springer Science+Business Media New York 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0271-9142 ;EISSN: 1573-2592 ;DOI: 10.1007/s10875-016-0251-z ;PMID: 26931785 ;CODEN: JCIMDO

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Title:
X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations
Author: Aadam, Zahra ; Kechout, Nadia ; Barakat, Abdelhamid ; Chan, Koon-Wing ; Ben-Ali, Meriem ; Ben-Mustapha, Imen ; Zidi, Fethi ; Ailal, Fatima ; Attal, Nabila ; Doudou, Fatouma ; Abbadi, Mohamed-Cherif ; Kaddache, Chawki ; Smati, Leila ; Touri, Nabila ; Chemli, Jalel ; Gargah, Tahar ; Brini, Ines ; Bakhchane, Amina ; Charoute, Hicham ; Jeddane, Leila ; El Atiqi, Sara ; El Hafidi, Naïma ; Hida, Mustapha ; Saile, Rachid ; Alj, Hanane Salih ; Boukari, Rachida ; Bejaoui, Mohamed ; Najib, Jilali ; Barbouche, Mohamed-Ridha ; Lau, Yu-Lung ; Mellouli, Fethi ; Bousfiha, Ahmed Aziz
Subjects: Adult ; Agammaglobulinaemia Tyrosine Kinase ; Agammaglobulinemia - complications ; Agammaglobulinemia - diagnosis ; Agammaglobulinemia - genetics ; Agammaglobulinemia - immunology ; Age of Onset ; Algeria ; Alleles ; B-Lymphocytes - immunology ; B-Lymphocytes - pathology ; Biochemistry, Molecular Biology ; Biomedical and Life Sciences ; Biomedicine ; Child ; Child, Preschool ; Gene Expression ; Gene Frequency ; Genetic Association Studies ; Genetic Counseling ; Genetic Diseases, X-Linked - complications ; Genetic Diseases, X-Linked - diagnosis ; Genetic Diseases, X-Linked - genetics ; Genetic Diseases, X-Linked - immunology ; Heterozygote ; Humans ; Immunology ; Infant ; Infectious Diseases ; Internal Medicine ; Life Sciences ; Male ; Medical Microbiology ; Morocco ; Mutation ; Opportunistic Infections - complications ; Opportunistic Infections - diagnosis ; Opportunistic Infections - genetics ; Opportunistic Infections - immunology ; Original Article ; Protein-Tyrosine Kinases - genetics ; Protein-Tyrosine Kinases - immunology ; Sequence Analysis, DNA ; Tunisia
Is Part Of: Journal of clinical immunology, 2016-04, Vol.36 (3), p.187-194
Description: 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.
Publisher: New York: Springer US
Language: English
Identifier: ISSN: 0271-9142
EISSN: 1573-2592
DOI: 10.1007/s10875-016-0251-z
PMID: 26931785
CODEN: JCIMDO
Source: AUTh Library subscriptions: ProQuest Central
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X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations

Springer Science+Business Media New York 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0271-9142 ;EISSN: 1573-2592 ;DOI: 10.1007/s10875-016-0251-z ;PMID: 26931785 ;CODEN: JCIMDO

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