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Article

Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2017

Celmeli Fatih, Kocabas Abdullah, Isik Ishak A, Parlak Mesut, Kisand Kai, Ceylaner Serdar, Turkkahraman Doga

Abstract excerpt

Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a...

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Source

Identifiers

PMID: 28222032
DOI: 10.1515/jpem-2016-0276

Genes

AIRE

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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