Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report

This case report discusses a 9-year-old Lebanese boy with a novel mutation in the AIRE gene, leading to Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy (APECED). The patient exhibited symptoms such as jaundice, alopecia, recurrent oral thrush, nail dystrophy, and severe failure to thrive. Genetic testing confirmed a novel homozygous pathogenic variant in the AIRE gene, expanding the genotypic and phenotypic spectrum of APECED, especially in populations with high consanguinity rates. The report underscores the importance of genetic testing in diagnosing rare autoimmune disorders and suggests further studies to explore the novel variant's association with hepatic manifestations in APECED.