Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
TLDR An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
An 11-year-old Greek girl was diagnosed with APECED due to a rare homozygous T16M mutation in the AIRE gene, experiencing recurrent mucocutaneous candidiasis, transient alopecia, hypoparathyroidism, and dental enamel hypoplasia. Genetic analysis confirmed her as the first known homozygous case for this mutation in Greece, with her parents being heterozygous carriers. This case underscored the importance of genetic testing and detailed family history in diagnosing rare genetic disorders, and emphasized the need for regular follow-up to manage potential complications.
