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Article

Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies.

Hormone research in paediatrics - 1 Jan 2010

Proust-Lemoine E, Saugier-Véber P, Lefranc D, Dubucquoi S, Ryndak A, Buob D, Lalau J D, Desailloud R, Weill J, Prin L, Lefebvre H, Wémeau J L

Abstract excerpt

BACKGROUND: Autoimmune polyendocrine syndrome type 1 (APS1) has been poorly evaluated in France. We focused on the north-western part of the country to describe clinical phenotypes, especially severe forms of the disease, and AIRE gene mutations. METHODS: Clinical and immunological data were coll...

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Source

Identifiers

PMID: 20453472
DOI: 10.1159/000297714

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20453472-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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