Article
Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes.
The Journal of allergy and clinical immunology - 1 Nov 2007
Zhang Li, Radigan Lin, Salzer Ulrich, Behrens Timothy W, Grimbacher Bodo, Diaz George, Bussel James, Cunningham-Rundles Charlotte
Abstract excerpt
BACKGROUND: Mutations in the gene coding for transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) have been identified in common variable immunodeficiency (CVID). Mutations coincided with immunodeficiency in families, suggesting dominant inheritance. OBJECTIVE: Because most subjects with CVID have no immunodeficient family members and heterozygous mutations predominate, the role of...
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