ArticleJournal of clinical immunology2016
X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
Article in Journal of clinical immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed.
- Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity.Frontiers in genetics · 2026Article
- Spectrum of BTK gene mutations in Vietnamese patients with X-linked agammaglobulinemia.Molecular biology reports · 2025Article
- Case report of renal manifestations in X-linked agammaglobulinemia.Frontiers in immunology · 2024Article
- Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.Frontiers in immunology · 2023Article
- Molecular alterations in the integrated diagnosis of pediatric glial and glioneuronal tumors: A single center experience.PloS one · 2022Article
- Nodular regenerative hyperplasia in X-linked agammaglobulinemia: An underestimated and severe complication.The Journal of allergy and clinical immunology · 2022Article
- Knowledge Discovery from Medical Data and Development of an Expert System in Immunology.Entropy (Basel, Switzerland) · 2021Article
- Systematics for types and effects of RNA variations.RNA biology · 2021Article
- Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.Molecular genetics & genomic medicine · 2021Article
- Chronic Lung Disease in Primary Antibody Deficiency: Diagnosis and Management.Immunology and allergy clinics of North America · 2020Review
- Case Report: A Case of X-Linked Agammaglobulinemia With High Serum IgE Levels and Allergic Rhinitis.Frontiers in immunology · 2020Article
- Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.Frontiers in immunology · 2020Article
- Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.Frontiers in immunology · 2020Article
- Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.Frontiers in immunology · 2020Article
- X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.The World Allergy Organization journal · 2019Article
- DisseminatedBMJ case reports · 2017Article
- Lung Disease in Primary Antibody Deficiencies.The journal of allergy and clinical immunology. In practiceReview
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32 authors.
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Abstract
purposeX-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.
methodsFifty 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.
resultsWe 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.
conclusionsThis 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.
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