Autoimmune Polyendocrine Syndrome Type 1 in North-Western France: AIRE Gene Mutation Specificities and Severe Forms Needing Immunosuppressive Therapies

作者：Proust Lemoine E^*; Saugier Veber P; Lefranc D; Dubucquoi S; Ryndak A; Buob D; Lalau J D; Desailloud R; Weill J; Prin L; Lefebvre H; Wemeau J L

来源：Hormone Research in Paediatrics, 2010, 74(4): 275-284.

DOI：10.1159/000297714

• Autoimmune polyendocrine syndrome type 1
• Immunosuppressive therapies
• AIRE
• Genotype

Background: 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. Methods: Clinical and immunological data were collected, and pathological mutations were identified by DNA sequencing. Results: 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. Conclusion: 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.

• 出版日期2010