Autoimmune polyendocrine syndrome type 1 (APS1) is characterized by multiorgan autoimmunity. We aim at characterizing a multi-center Brazilian cohort of APS1 patients by clinical evaluation, searching mutation in the AIRE gene, measuring serum autoantibodies, and investigating correlations between findings. We recruited patients based on the clinical criteria and tested them for AIRE mutations, antibodies against interferon type I and interleukins 17A, 17F and 22. We identified 12 unrelated families (13 patients) with typical signs of APS1 in the proband, and the screening of relatives recognized an asymptomatic child. Candidiasis was present in all cases, and 19 other manifestations were observed. All patients carried one of 10 different mutations in AIRE, being 3 new ones, and were positive for anti-interferon type I serum antibody. Anti-interleukin-17A levels inversely correlated with the number of manifestations in each patient. This negative correlation may suggest a protective effect of anti-interleukin-17A with a potential therapeutic application.

自身免疫性多内分泌综合征1型（APS1）的特征是多器官自身免疫。我们旨在通过临床评估，在AIRE基因中搜索突变，测量血清自身抗体以及调查结果之间的相关性，对巴西APS1患者的多中心队列进行特征分析。我们根据临床标准招募了患者，并测试了他们的AIRE突变，针对I型干扰素的抗体以及白介素17A，17F和22。我们在先证者中确定了12个无亲缘关系的家庭（13例患者）具有APS1的典型体征，并对他们进行了筛查。亲戚认出是无症状的孩子。所有病例均存在念珠菌病，并观察到其他19种表现。所有患者均携带AIRE的10种不同突变之一，是3个新抗体，并且抗干扰素I型血清抗体呈阳性。抗白细胞介素17A水平与每位患者的表现数量成反比。这种负相关性可能表明抗白介素-17A具有潜在的治疗应用的保护作用。