To the Editor: The Brief Report by Saffran et al.1 and the companioneditorial by Buckley2 (May 26 issue) concern the effects ofmutations in the gene for Bruton's tyrosine kinase (Btk)3,4on 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 withchanges in non-kinase regions of Btk.
Recently, we evaluated eight patients in whom six differentmutations in the Btk gene have been identified5. In one of ourpatients, Btk transcripts lacked the exon encoding most of thekinase domain, had a frame shift, . . . [Full Text of this Article]
References
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