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Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients

โœ Scribed by Eun-Kyeong Jo; Yue Wang; Hirokazu Kanegane; Takeshi Futatani; Chang-Hwa Song; Jeong-Kyu Park; Jung Soo Kim; Dong Soo Kim; Kang-Mo Ahn; Sang-Il Lee; Hyeon Jin Park; Youn Soo Hahn; Jae-Ho Lee; Toshio Miyawaki


Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
223 KB
Volume
48
Category
Article
ISSN
1435-232X

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Mutations in the Bruton tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in the peripheral blood. We evaluated 17 male Brazilian patients

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## Mutations in the Bruton's tyrosine kinase (BTK ) gene are responsible for X-linked Agammaglobulinemia (XLA), an immunodeficiency caused by a block in B cell differentiation. Non Isotopic RNAse Cleavage Assay (NIRCA), followed by sequencing was used to screen for BTK mutations in 11 Italian XLA p

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X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. Twenty Australian patients with an XLA phenotype, from 15 unrelated families, were found to have 14 mutations. Five of the mutations were previously described c.83G>A (p.R28H), c.86

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X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease with a block in differentiation from pre-B to B cells resulting in a selective defect in the humoral immune response. Affected males have very low concentrations of serum immunoglobulins leading predominantly to recurrent bac