Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
This study expands the genotypic and phenotypic spectrum of a rare inborn error of immunity in a child with chronic mucocutaneous candidiasis, enamel hypoplasia, and hepatitis.
Authors
- Rima Hanna‐Wakim (ORCID: https://orcid.org/0000-0002-8870-2159)
- Nadine Yazbeck (ORCID: https://orcid.org/0000-0002-2325-4113)
- Mazen Kurban (ORCID: https://orcid.org/0000-0003-1011-0687)
- Pascale E. Karam (ORCID: https://orcid.org/0000-0003-0164-4935)
Institutions
- American University of Beirut Medical Center (LB)
- American University of Beirut (LB)
Publication Details
- Journal
- Genes
- Published
- 2026-01-29
- DOI
- https://doi.org/10.3390/genes17020160
- Primary Topic
- Adrenal Hormones and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00