ArticleAmerican journal of human genetics1998
Mutations in btk in patients with presumed X-linked agammaglobulinemia.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 170 citations in OpenAlex.
- Fatal X-linked agammaglobulinemia complicated by septic shock: a case report and comprehensive review of novel BTK mutations.Frontiers in immunology · 2025Pooled it
- Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.International journal of molecular sciences · 2026Article
- Regulation of B cell development and lymphocyte function by transcriptional coactivator OCA-B.Frontiers in immunology · 2026Review
- Clinical relevant Bruton's X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025Article
- TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.Frontiers in medicine · 2025Article
- Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report.Immunity, inflammation and disease · 2023Article
- Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.Frontiers in immunology · 2023Article
- Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia.Case reports in immunology · 2023Article
- Article
- InactivatingEJHaem · 2022Article
- Dysregulated inflammasome activity in intestinal inflammation - Insights from patients with very early onset IBD.Frontiers in immunology · 2022Review
- Target modulation and pharmacokinetics/pharmacodynamics translation of the BTK inhibitor poseltinib for model-informed phase II dose selection.Scientific reports · 2021Article
- Inhibition of Bruton's tyrosine kinase as a therapeutic strategy for chemoresistant oral squamous cell carcinoma and potential suppression of cancer stemness.Oncogenesis · 2021Article
- Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.Journal of clinical immunology · 2021Article
- Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.Frontiers in immunology · 2021Observational
- X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature.Frontiers in pediatrics · 2021Article
- Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.Frontiers in immunology · 2020Article
- Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.Frontiers in immunology · 2020Article
- Evaluating Acalabrutinib In The Treatment Of Mantle Cell Lymphoma: Design, Development, And Place In Therapy.OncoTargets and therapy · 2019Article
- X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.The World Allergy Organization journal · 2019Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
In 1993, two groups showed that X-linked agammaglobulinemia (XLA) was due to mutations in a tyrosine kinase now called Btk. Most laboratories have been able to detect mutations in Btk in 80%-90% of males with presumed XLA. The remaining patients may have mutations in Btk that are difficult to identify, or they may have defects that are phenotypically similar to XLA but genotypically different. We analyzed 101 families in which affected males were diagnosed as having XLA. Mutations in Btk were identified in 38 of 40 families with more than one affected family member and in 56 of 61 families with sporadic disease. Excluding the patients in whom the marked decrease in B cell numbers characteristic of XLA could not be confirmed by immunofluorescence studies, mutations in Btk were identified in 43 of 46 patients with presumed sporadic XLA. Two of the three remaining patients had defects in other genes required for normal B cell development, and the third patient was unlikely to have XLA, on the basis of results of extensive Btk analysis. Our techniques were unable to identify a mutation in Btk in one male with both a family history and laboratory findings suggestive of XLA. DNA samples from 41 of 49 of the mothers of males with sporadic disease and proven mutations in Btk were positive for the mutation found in their son. In the other 8 families, the mutation appeared to arise in the maternal germ line. In 20 families, haplotype analysis showed that the new mutation originated in the maternal grandfather or great-grandfather. These studies indicate that 90%-95% of males with presumed XLA have mutations in Btk. The other patients are likely to have defects in other genes.
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