Horm Res Paediatr. 2010;74(4):275-284. doi: 10.1159/000297714. Epub 2010 May 7.
Autoimmune polyendocrine syndrome type 1 (APS1) has been poorly evaluated in France. We focused on the north-western part of the country to describe clinical phenotypes, especially severe forms of the disease, and AIRE gene mutations.
Clinical and immunological data were collected, and pathological mutations were identified by DNA sequencing.
Nineteen patients were identified with APS1. Clinical manifestations varied greatly, showing 1-10 components. Mucocutaneous candidiasis, adrenal failure, hypoparathyroidism, alopecia and other severe infections were the most frequent components. Four patients had severe forms, needing immunosuppressive therapy: 2 for hepatitis; 1 for severe malabsorption, and 1 for a T cell large granular lymphocytic leukemia. These therapies were very effective but caused general discomfort. One patient died of septicemia. Four different AIRE gene mutations were identified, and a 13-bp deletion in exon 8 (c.967-979del13) was the most prevalent. There was at least one allele correlating with this mutation and alopecia occurrence (p = 0.003). No novel mutation was detected.
APS1 appears to be rare in north-western France. We identified 4 cases with a severe form needing immunosuppressive therapy. The AIRE gene mutations are more like those found in north-western Europe than those found in Finland.
自身免疫性多内分泌腺综合征 1 型（APS1）在法国的评估较差。我们专注于该国的西北部，以描述临床表型，特别是疾病的严重形式和 AIRE 基因突变。
收集临床和免疫学数据，并通过 DNA 测序鉴定病理性突变。
确定了 19 名 APS1 患者。临床表现差异很大，显示 1-10 个组成部分。黏膜皮肤念珠菌病、肾上腺功能衰竭、甲状旁腺功能减退、脱发和其他严重感染是最常见的组成部分。4 名患者出现严重形式，需要免疫抑制治疗：2 名用于肝炎；1 名用于严重吸收不良，1 名用于 T 细胞大颗粒淋巴细胞白血病。这些治疗非常有效，但引起全身不适。1 名患者死于败血症。确定了 4 种不同的 AIRE 基因突变，最常见的是外显子 8 中的 13 个碱基缺失（c.967-979del13）。至少有一个等位基因与该突变和脱发发生相关（p=0.003）。未发现新的突变。
APS1 在法国西北部似乎很少见。我们确定了 4 例需要免疫抑制治疗的严重形式。AIRE 基因突变更类似于北欧发现的突变，而不是芬兰发现的突变。
