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Article

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.

European journal of endocrinology - 24 May 2022

Cranston Treena, Boon Hannah, Olesen Mie K, Ryan Fiona J, Shears Deborah, London Rosemary, Rostom Hussam, Elajnaf Taha, Thakker Rajesh V, Hannan Fadil M

Abstract excerpt

Objective: The autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disorder characterised by immune dysregulation and autoimmune endocrine gland destruction. APS-1 is caused by biallelic mutations affecting the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which facilitates immunological self-tolerance. The objective was to investigate >300 probands with suspected APS-1 or...

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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: 35521792
DOI: 10.1530/EJE-21-0730
PMCID: PMC9175554

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