Article
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.
The Journal of allergy and clinical immunology - 1 Dec 2001
Kanegane H, Futatani T, Wang Y, Nomura K, Shinozaki K, Matsukura H, Kubota T, Tsukada S, Miyawaki T
Abstract excerpt
BACKGROUND: X-linked agammaglobulinemia (XLA), caused by mutations in Bruton's tyrosine kinase (BTK ), is the most common form of inherited antibody deficiency. We previously reported that a flow cytometric evaluation of BTK expression in monocytes could easily detect XLA as well as its carrier. OBJECTIVE: Our purpose was to perform further flow cytometric analysis in additional XLA families in Japan. METHODS: In...
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