A novel heterozygous pathogenic variant causing autoimmunity but not infectious susceptibility.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is characterized by the triad of hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis due to biallelic deleterious variants in . However, emerging evidence has established that some monoallelic variants affecting specific functional domains may also drive [...]