Volume 27, Number 1, 95-100, DOI: 10.1007/s10875-006-9049-8

CTLA-4 Gene Exon-1 +49 A/G Polymorphism: Lack of Association with Autoimmune Disease in Patients with Common Variable Immune Deficiency

Adina Kay Knight, Davide Serrano, Yaron Tomer and Charlotte Cunningham-Rundles

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Abstract

The presence of the G allele of exon-1 +49 A/G polymorphisms of the cytotoxic T lymphocyte antigen 4 (CTLA-4) gene has been described as a risk factor associated with the development of autoimmune diseases. Since Common Variable Immune Deficiency (CVID) is associated with autoimmune manifestations in approximately 25% of patients, we sought to examine the association of the CTLA-4 single nucleotide polymorphism with autoimmunity and other inflammatory complications. Sixteen of 47 CVID (34%) patients had a history of autoimmunity, and 15 (32%) had known granulomatous disease with or without lymphoid hyperplasia. CTLA-4 genotype frequencies were AA 40% (19), AG 45% (21), and GG 15% (7). Allele frequencies were A 63% and G 37%, similar to control populations. There were no significant associations between CTLA-4 exon-1 +49 A/G polymorphism and autoimmune or lymphoid hyperplasia and granulomatous disease in this mostly Caucasian CVID patient population.

KEY WORDS  Common variable immune deficiency - autoimmunity - granuloma - lymphoid hyperplasia

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