ArticleInternational journal of hematology2006
X-linked agammaglobulinemia diagnosed in adulthood: a case report.
Article in International journal of hematology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 11 citations in OpenAlex.
- Article
- Common variable immunodeficiency: etiological and treatment issues.International archives of allergy and immunology · 2009Review
- X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature.Clinical and molecular allergy : CMA · 2008Article
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Authors and funding
14 authors at 4 institutions in 1 country.
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Abstract
X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency caused by mutations in Bruton's tyrosine kinase (BTK). Patients typically become symptomatic during infancy or early childhood and develop recurrent bacterial infections. We report a Japanese case of XLA diagnosed in a patient who was 27 years of age and who had no history of severe infection. The patient's serum immunoglobulin (Ig) G, IgA, and IgM levels were 132,7, and 17 mg/dL, respectively. The percentage of positive cells for CD19 and CD20 was 0.03% and 0.02%, respectively. The patient's brother and sister had no abnormalities. Flow cytometric analysis showed a partially reduced expression of BTK protein in the patient's peripheral monocytes. Sequencing of the BTK. gene revealed a missense mutation (230C>T,T33I). Given this data, this patient was diagnosed as having rare, late onset XLA with a missense mutation in the BTK gene.
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