Polyglandular autoimmune syndrome type I – a novel AIRE mutation in a North American patient
Polyglandular autoimmune syndrome type I – a novel AIRE mutation in a North American patient
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Publisher
Germany: De Gruyter
Journal title
Language
English
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Publisher
Germany: De Gruyter
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Scope and Contents
Contents
Autoimmune polyglandular syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare autoimmune disease that results from autosomal recessive mutations of the human autoimmune regulatory (AIRE) gene. We present the case of a 17-year-old North American girl of primarily Norwegian de...
Alternative Titles
Full title
Polyglandular autoimmune syndrome type I – a novel AIRE mutation in a North American patient
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4407642
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4407642
Other Identifiers
ISSN
0334-018X
E-ISSN
2191-0251
DOI
10.1515/jpem-2013-0328
