Your browser doesn't support javascript.
loading
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
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.
Afiliação
  • Ferré EMN; Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Yu Y; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Oikonomou V; Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Hilfanova A; Department of Pediatrics, Immunology, Infectious and Rare Diseases, Medical School of the International European University, Kyiv, Ukraine.
  • Lee CR; Laboratory of Pathology, Clinical Center for Cancer Research, National Cancer Institute, National Institutes of Health (NIH), Bethesda, MD, United States.
  • Rosen LB; Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Burbelo PD; National Institute of Dental and Craniofacial Research, National Institutes of Health (NIH), Bethesda, MD, United States.
  • Vazquez SE; Diabetes Center, University of California, San Francisco, San Francisco, CA, United States.
  • Anderson MS; Diabetes Center, University of California, San Francisco, San Francisco, CA, United States.
  • Barocha A; Laboratory of Asthma and Lung Inflammation, National Heart Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, MD, United States.
  • Soldatos A; National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Holland SM; Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Walkiewicz MA; Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Lionakis MS; Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
Front Immunol ; 14: 1133387, 2023.
Article em En | MEDLINE | ID: mdl-36875114
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Poliendocrinopatias Autoimunes / Variações do Número de Cópias de DNA Tipo de estudo: Guideline Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Poliendocrinopatias Autoimunes / Variações do Número de Cópias de DNA Tipo de estudo: Guideline Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article