SUN-040 Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: Prospective Screening of Asplenism and Pneumonitis in a Cohort of 25 Patients

Background: APECED syndrome is a rare monogenic disease caused by homozygous mutation of AIRE gene. It classically presents with chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency with an early onset in childhood. Non-endocrine manifestations as ectodermic dystrophy, as...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Humbert, Linda, Dubucquoi, Sylvain, Kemp, Elizabeth, Saugier-Veber, Pascale, Fabien, Nicole, Isabelle, Raymond Top, Cardot-Bauters, Catherine, Maciejewski Cartigny, Maryse, Delemer, Brigitte, Docao, Christine, Carel, Jean-Claude, Guignat, Laurence, Kerlan, Veronique, Lefevre, Herve, Vanhove, Laura, Sendid, Boualem, Souchon, Pierre-François, Weill, Jacques, Vantyghem, Marie-Christine, Wemeau, Jean-Louis, Proust Lemoine, Emmanuelle
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Genetics and Development (including Gene Regulation)
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553308/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-040
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