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Article

Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.

Human mutation - 1 Sept 2001

Cihakova D, Trebusak K, Heino M, Fadeyev V, Tiulpakov A, Battelino T, Tar A, Halász Z, Blümel P, Tawfik S, Krohn K, Lebl J, Peterson P

Abstract excerpt

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive disorder that results in several autoimmune diseases due to the mutations in the AIRE (autoimmune regulator) gene. APECED patients develop several autoimmune endocrine disorders and are characterized by th...

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Source

Identifiers

PMID: 11524733
DOI: 10.1002/humu.1178

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11524733-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.PMID 11524733Read ↗

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