Endocrine Unit, Department of Medicine, University of Padova, Padova, Italy.
J Endocrinol Invest. 2012 Nov;35(10):877-81. doi: 10.3275/8109. Epub 2011 Nov 21.
Autoimmune polyendocrinopathy-candidiasis-ectodermal- dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1), is a very rare disease. Diagnosis requires the presence of at least two of three major clinical features: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease.
In this study, we analyzed Autoimmune Regulator (AIRE) gene mutations and genotype-phenotype correlation in APECED patients originating from Calabria, a region in the south of Italy.
Four patients and their first-degree relatives were evaluated for clinical manifestations, autoantibody presence and AIRE gene mutations.
Three patients carried a homozygous W78R mutation on exon 2, typical of patients with APECED from Apulia; the fourth patient had a homozygous R203X mutation on exon 5, typical of APECED patients from Sicily. Clinical disease expression showed wide variability. Analysis of relatives allowed the identification of 6 heterozygotes, none of whom showed major findings of APECED.
No AIRE gene mutations specific to Calabria were found in patients with APS-1, but mutations similar to those in patients from Apulia and Sicily. Heterozygosity for AIRE gene mutation is not associated with major findings of APECED.
自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED），也称为自身免疫性多内分泌腺病综合征 1 型（APS-1），是一种非常罕见的疾病。诊断需要至少存在三种主要临床特征中的两种：慢性黏膜皮肤念珠菌病、慢性甲状旁腺功能减退症和艾迪生病。
在这项研究中，我们分析了源自意大利南部卡拉布里亚的 APECED 患者的自身免疫调节因子（AIRE）基因突变和基因型-表型相关性。
评估了 4 名患者及其一级亲属的临床表现、自身抗体存在和 AIRE 基因突变。
3 名患者携带 2 号外显子上的纯合 W78R 突变，这是普利亚 APECED 患者的典型突变；第 4 名患者携带 5 号外显子上的纯合 R203X 突变，这是西西里岛 APECED 患者的典型突变。临床疾病表现存在广泛的变异性。对亲属的分析确定了 6 个杂合子，他们均无 APECED 的主要表现。
在 APS-1 患者中未发现与卡拉布里亚相关的特定 AIRE 基因突变，但与普利亚和西西里岛患者的突变相似。AIRE 基因突变的杂合性与 APECED 的主要表现无关。
