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Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome.

Clinical endocrinology - 1 Mar 2001

Meyer G, Donner H, Herwig J, Böhles H, Usadel K H, Badenhoop K

Abstract excerpt

OBJECTIVE: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare systemic autoimmune disorder of monogenic and autosomal-recessive inheritance. To date, 29 APECED causing mutations have been identified in the responsible gene AIRE-1, coding for a regulator of transcrip...

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Share to Addison Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11298085
DOI: 10.1046/j.1365-2265.2001.01230.x

Genes

AIRE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11298085-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

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Research trail→

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Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome.PMID 11298085Read ↗

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.Semantic proximity Read ↗

Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives.Semantic proximity Read ↗

Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.Semantic proximity Read ↗

A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation.Semantic proximity Read ↗

Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Semantic proximity Read ↗

Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED)--a diagnostic and therapeutic challenge.Semantic proximity Read ↗

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.Semantic proximity Read ↗

Novel homozygous AIRE mutation in a German patient with severe APECED.Semantic proximity Read ↗

APECED mutations in the autoimmune regulator (AIRE) gene.Semantic proximity Read ↗

AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECEDSemantic proximity Read ↗

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.Semantic proximity Read ↗

Novel compound heterozygous AIRE mutations in a Japanese patient with APECED.Semantic proximity Read ↗

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