Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype

INTRODUCTION: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inherited syndromes resulting from biallelic pathogenic variants in AIRE and heterozygous pathogenic var...

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Detalles Bibliográficos
Autores principales: Ferré, Elise M. N., Yu, Yunting, Oikonomou, Vasileios, Hilfanova, Anna, Lee, Chyi-Chia R., Rosen, Lindsey B., Burbelo, Peter D., Vazquez, Sara E., Anderson, Mark S., Barocha, Amisha, Heller, Theo, Soldatos, Ariane, Holland, Steven M., Walkiewicz, Magdalena A., Lionakis, Michail S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981804/
https://www.ncbi.nlm.nih.gov/pubmed/36875114
http://dx.doi.org/10.3389/fimmu.2023.1133387

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