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Correspondence
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Volume 331:949-951 October 6, 1994 Number 14
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Atypical X-Linked Agammaglobulinemia

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 by Saffran, D. C.
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To the Editor: The Brief Report by Saffran et al.1 and the companion editorial by Buckley2 (May 26 issue) concern the effects of mutations in the gene for Bruton's tyrosine kinase (Btk)3,4 on the phenotypic expression of X-linked agammaglobulinemia. We take exception to Dr. Buckley's conclusion that less severe (atypical) X-linked agammaglobulinemia may be associated with changes in non-kinase regions of Btk.

Recently, we evaluated eight patients in whom six different mutations in the Btk gene have been identified5. In one of our patients, Btk transcripts lacked the exon encoding most of the kinase domain, had a frame shift, . . . [Full Text of this Article]

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