Article
Assessment of male CVID patients for mutations in the Btk gene: how many have been misdiagnosed?
Clinical and experimental immunology - 1 Jun 2001
Weston S A, Prasad M L, Mullighan C G, Chapel H, Benson E M
Abstract excerpt
The presentation of hypogammaglobulinaemia in young males without a family history of immunodeficiency can pose a diagnostic problem. In the past, the presence of B-cells has suggested a diagnosis of common variable immunodeficiency (CVID), although genotypic analysis has now clarified that individuals with B cells may have mutations in their Btk gene. In order to address the issue of how many male individuals...
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