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

Genes - 29 Jan 2026

Hanna-Wakim Rima, Karam Pascale E, Kurban Mazen, Yazbeck Nadine

Abstract excerpt

BACKGROUND/OBJECTIVES: Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy is an extremely rare autosomal recessive disorder caused by inborn errors of immunity. It is due to a loss-of-function mutation in the AIRE autoimmune regulator gene. Its manifestations include autoimmunity affecting endocrine glands, in addition to non-endocrine manifestations including dental enamel hypoplasia,...

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Share to AIRE Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41751543
DOI: 10.3390/genes17020160
PMCID: PMC12940173

Genes

AIRE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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