Ferrera F, Rizzi M, Sprecacenere B, Balestra P, Sessarego M, Di Carlo A, Filaci G, Gabrielli A, Ravazzolo R, Indiveri F
Centre of Excellence for Biomedical Research, University of Genoa, Viale Benedetto XV, 7 16132 Genoa, Italy.
Clin Immunol. 2007 Jan;122(1):13-7. doi: 10.1016/j.clim.2006.09.013. Epub 2006 Nov 13.
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, one of which has never previously been described. Intronic polymorphism G11107A was significantly correlated to SSc/thyroiditis. Data show that variants of the AIRE gene might be correlated to different clinical manifestations in SSc patients.
自身免疫调节因子（AIRE）基因突变会导致自身免疫性多内分泌腺病-念珠菌病-外胚层发育不良（APECED）。系统性硬化症（SSc）是一种主要以皮肤受累为特征的非器官特异性自身免疫性疾病，常与APECED常见的其他自身免疫表现相关。对19例系统性硬化症患者、22例合并自身免疫性甲状腺炎的系统性硬化症患者和100名健康对照进行了分析。我们鉴定出11种AIRE基因变体，其中一种此前从未被描述过。内含子多态性G11107A与系统性硬化症/甲状腺炎显著相关。数据表明，AIRE基因变体可能与系统性硬化症患者的不同临床表现相关。
