Abstract

RATIONALE: Cytotoxic T lymphocyte antigen 4 (CTLA-4) gene exon-1 +49 A/G polymorphisms have been described as risk factors for the development of autoimmune diseases with the G allele showing an increased risk. Common Variable Immune Deficiency (CVID) is associated with autoimmune manifestations in approximately 25% of affected patients. The allelic association of the CTLA-4 exon-1 +49 A/G single nucleotide polymorphism with autoimmune and inflammatory disease in CVID patients was examined.

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