Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia

INTRODUCTION: Autoimmune polyglandular syndrome type 1 (APS-1) is an autosomal recessive disorder, caused by mutations in the AIRE gene. The major components of APS-1 are chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Clinical, genetic and immunological...

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Publicado no:Zdr Varst
Main Authors: BRATANIC, Nina, KISAND, Kai, AVBELJ STEFANIJA, Magdalena, BATTELINO, Tadej, TREBUSAK PODKRAJSEK, Katarina
Formato: Artigo
Idioma:Inglês
Publicado em: De Gruyter Open 2015
Assuntos:
Original Scientific Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4820163/
https://ncbi.nlm.nih.gov/pubmed/27646917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/sjph-2015-0017
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