Article
A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family.
Human immunology - 1 Aug 2012
Lougaris V, Gallizzi R, Vitali M, Baronio M, Salpietro A, Bergbreiter A, Salzer U, Badolato R, Plebani A
Abstract excerpt
Common variable immunodeficiency (CVID) is a primary immune disorder characterized by low immunoglobulin serum levels and increased susceptibility to infections. Underlying genetic causes are only known in less than 15% of patients and encompass mutations in the genes encoding for ICOS, TACI, BAFF-R, CD19, CD20, CD81 and MSH5. TACI is the most frequently mutated gene among CVID patients. We report on two...
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