APS-I/APECED: the clinical disease and therapy
J Perheentupa - Endocrinology and Metabolism Clinics, 2002 - endo.theclinics.com
This article discusses the clinical picture and course, diagnostics, treatment, and prognosis
of patients with autoimmune polyendocrine disease type I (APS-I or APD-I), which is also
called autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy (APECED) or
autoimmune polyglandular/polyendocrine syndrome type 1 (OMIM 240300). In this
autosomal recessive disease, mutations in the autoimmune regulator (AIRE) gene on
chromosome 21q22. 3 [1] cause a disorder of the immune system with autoaggressive …
of patients with autoimmune polyendocrine disease type I (APS-I or APD-I), which is also
called autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy (APECED) or
autoimmune polyglandular/polyendocrine syndrome type 1 (OMIM 240300). In this
autosomal recessive disease, mutations in the autoimmune regulator (AIRE) gene on
chromosome 21q22. 3 [1] cause a disorder of the immune system with autoaggressive …