Progress of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy / 国际儿科学杂志

ABSTRACT

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)is a clinical rare autosomal recessive disorder.The major clinical manifestations are chronic mucocutaneous candadiasis,hypoparathyroidism and Addison disease.The three manifestations usually occur sequentially.The disease is caused by loss of function mutations in the AIRE gene.The onset,diagnosis,development,therapy and follow-up of this disease usually is the pediatric process.If we can early identify,timely diagnose and treat,regularly follow-up,it will improve children prgnosis and the quality of life,and avoid emergency and severe cases.