Article
Extreme variation in X-linked agammaglobulinemia phenotype in a three-generation family.
The Journal of allergy and clinical immunology - 1 Nov 1997
Kornfeld S J, Haire R N, Strong S J, Brigino E N, Tang H, Sung S S, Fu S M, Litman G W
Abstract excerpt
BACKGROUND: X-linked agammaglobulinemia is typically a severe life-threatening disease characterized by the failure of B-cell differentiation and antibody production, which manifests in infancy and early childhood. Recently, we reported a novel mutation (Cys145-->STOP) in Bruton's tyrosine kinase in a 51-year-old man who was referred for evaluation because of chronic nasal congestion, recurrent sinusitis,...
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