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

    January 2026 in “ Genes ”
    Rima Hanna‐Wakim, Pascale E. Karam, Mazen Kurban, Nadine Yazbeck
    Studysummary This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
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    Research cited in this study 1

    1. Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Comprehensive Review Biomedicines · 2024