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Article

APECED in Turkey: A case report and insights on genetic and phenotypic variability.

Clinical immunology (Orlando, Fla.) - 1 Sept 2018

Fierabracci Alessandra, Pellegrino Marsha, Frasca Federica, Kilic Sara Sebnem, Betterle Corrado

Abstract excerpt

APECED is a rare monogenic recessive disorder caused by mutations in the AIRE gene. In this manuscript, we report a male Turkish patient with APECED syndrome who presented with chronic mucocutaneous candidiasis associated with other autoimmune manifestations developed over the years. The presence of the homozygous R257X mutation of the AIRE gene confirmed the diagnosis of APECED syndrome. We further performed...

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Source

Identifiers

PMID: 30018023
DOI: 10.1016/j.clim.2018.06.012

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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