Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females

Takeshi Futatani, Chiaki Watanabe, Yoshihiro Baba, Satoshi Tsukada, Hans D. Ochs

研究成果: Contribution to journalArticle査読

58 被引用数 (Scopus)

抄録

X-linked agammaglobulinaemia (XLA) is a primary immunodeficiency caused by mutations in the gene coding for Bruton's tyrosine kinase (Btk) and is characterized by an arrest of B-cell development. We analysed Btk protein expression in platelets using flow cytometry and found that normal platelets express large amounts of Btk. Assessment of affected males from 45 unrelated XLA families revealed that platelets of the majority of the patients (37 out of 45 families) had decreased or absent Btk expression, and that platelets from carrier females of these families had both normal and mutated Btk expression, indicating that megakaryocytes in XLA carriers undergo random X-chromosome inactivation. These observations demonstrate that Btk is not crucial for maturation of megakaryocytes and the production of platelets. No correlation between Btk expression in platelets and clinical phenotype was observed in this study. Flow cytometric evaluation using platelets is a simple and rapid method to test Btk expression. It may be used as a screening test for XLA and for carrier detection, followed, if necessary, by more expensive mutation analyses.

本文言語英語
ページ(範囲)141-149
ページ数9
ジャーナルBritish Journal of Haematology
114
1
DOI
出版ステータス出版済み - 2001
外部発表はい

All Science Journal Classification (ASJC) codes

  • Hematology

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