ArticleInternational journal of hematology2015
Mutations in Bruton's tyrosine kinase impair IgA responses.
Article in International journal of hematology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Elucidation of the Roles of CD22 Cis-Ligands in B Lymphocyte Development and Signaling Using Genetic and Chemical Tools.Advances in experimental medicine and biology · 2026Review
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia.Immunologic research · 2022Article
- Targeting BTK Signaling in the Microenvironment of Solid Tumors as a Feasible Cancer Therapy Option.Cancers · 2021Review
- Bruton's tyrosine kinase regulates gut immune homeostasis through attenuating Th1 response.Cell death & disease · 2021Article
- Presentation of a case of Bruton type primary agammaglobulinemia in Guinea.The Pan African medical journal · 2020Article
- Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis.Frontiers in immunology · 2018Article
- Dynamic changes of the normal B lymphocyte repertoire in CLL in response to ibrutinib or FCR chemo-immunotherapy.OncoimmunologyArticle
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in Bruton's tyrosine kinase (BTK), and is characterized by markedly decreased numbers of blood B cells and an absence of all immunoglobulin isotypes. We performed whole exome sequencing in a male pediatric patient with dysgammaglobulinemia with IgA deficiency. Genetic analysis revealed a BTK missense mutation (Thr316Ala). To investigate whether a BTK mutation underlay this antibody deficiency with marked decrease of IgA in this patient, we performed functional analyses of B cells and phagocytes, and molecular analyses of somatic hypermutation and class switch recombination. The BTK missense mutation resulted in B cells with reduced BTK and high IgM expression. Equal proportions of CD19(low) and CD19(normal) fractions were observed, and both included naïve and memory B cells. Calcium influx and phospholipase Cγ2 phosphorylation upon IgM stimulation were marginally impaired in CD19(low), but not in CD19(+) B cells. Similar to XLA patients, IgA transcripts showed low SHM levels, whereas IgG transcripts were hardly affected. Our analyses suggest that the BTK mutation likely underlies the disease in this case, and that hypomorphic BTK mutations can result in normal circulating B cell numbers, but specifically impair IgA responses.
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