AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED

Summary Objective To assess autoimmune regulator (AIRE) gene mutations, class II HLA haplotypes, and organ‐ or non‐organ‐specific autoantibodies in patients with chronic hypoparathyroidism (CH) without associated Addison’s disease (AD) or chronic candidiasis (CC). Design, Patients and Measurements Twenty‐four patients who had CH without AD or CC were included in the study. AIRE gene mutations in all 14 exons were studied using PCR in 24 patients, 105 healthy controls and 15 first‐degree relatives of CH patients with AIRE mutations. Human leucocyte antigens (HLA) were determined for all 24 patients and 105 healthy controls. Autoantibodies to a range of antigens including NACHT leucine‐rich‐repeat protein‐5 (NALP5) and interferon omega (IFNω) were tested in all 24 patients. Results AIRE gene mutations were found in 6 of 24 (25%) patients, all females, and this was significantly higher (P