AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis

F Ferrera, M Rizzi, B Sprecacenere, P Balestra… - Clinical …, 2007 - Elsevier
Mutations in the autoimmune regulator (AIRE) gene are responsible for autoimmune
polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED). Systemic sclerosis
(SSc) is a non-organ-specific autoimmune disease mainly characterized by cutaneous
involvement, that is frequently associated with other autoimmune manifestations common to
APECED. Nineteen SSc patients, 22 patients affected by SSc associated with autoimmune
thyroiditis, and 100 healthy controls were analyzed. We identified 11 AIRE gene variants …