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Journal article

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

Abstract:

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 isolated hypoparathyroidism for AIRE abnormalities. Methods Probands were assessed by DN...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1530/eje-21-0730

Authors


Publisher:
European Society of Endocrinology Publisher's website
Journal:
European Journal of Endocrinology Journal website
Volume:
187
Issue:
1
Pages:
111–122
Publication date:
2022-05-24
Acceptance date:
2022-05-04
DOI:
EISSN:
1479-683X
ISSN:
0804-4643
Pmid:
35521792
Language:
English
Keywords:
Pubs id:
1258884
Local pid:
pubs:1258884
Deposit date:
2022-05-29

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