Autoimmune polyendocrinopathy-candidosis syndrome (APECS): Clinical variation, inheritance and HLA association in 40 Finnish patients

摘要

At present age of 8-59 years the manifestation was most variable ranging from life-long mild mucocutaneous affection to 4-fold endocrinopathy. The components are of 3 sorts. 1. Ectodermal dystrophy (nails, enamel, hair, cornea, oral mucosa) proved to be independent of endocrinopathy. 2. Cellular immunodefect appeared as chronic candidosis of oral and vaginal mucosa, nails and skin, and anergy to tuberculin and candida. 3. Autoimmune destruction led to hypoparathyroidism (32 patients), Addison's disease (22), female (6/13) and male (2/8) hypogonadism, pernicious anemia (5), diabetes (3) and hypothyroidism (1). No component was constant. Distribution of ancestors' birth places showed an accumulation at 5 rural areas, indicating involvement of a rare gene. Family pattern fitted to autosomal recessive gene (proportion of affected sibs 0.21-0.27 by different methods). Association was significant with HLA A3 (gene frequency 0.53 in contrast to 0.28 in healthy sibs and general population), but not with chromosome 6. The clinical variation appears to be independent of HLA.