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Published in 2019 at "Immunological Investigations"
DOI: 10.1080/08820139.2019.1671451
Abstract: ABSTRACT Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is a rare monogenic autosomal recessive disorder caused by biallelic mutations in the AIRE (autoimmune regulator) gene. Patients with APECED present with heterogeneous endocrine and non-endocrine manifestations.…
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Keywords:
literature;
delay diagnosis;
diagnosis apeced;
apeced case ... See more keywords