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Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada, Satoshi; Asano, Takaki; Moriya, Kunihiko; Boisson-Dupuis, Stephanie; Kobayashi, Masao; Casanova, Jean-Laurent; Puel, Anne.
Afiliação
  • Okada S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan. sokada@hiroshima-u.ac.jp.
  • Asano T; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Moriya K; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
  • Kobayashi M; Imagine Institute, University of Paris, Paris, France.
  • Casanova JL; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
J Clin Immunol ; 40(8): 1065-1081, 2020 11.
Article em En | MEDLINE | ID: mdl-32852681
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Candidíase Mucocutânea Crônica / Predisposição Genética para Doença / Fator de Transcrição STAT1 / Mutação com Ganho de Função / Heterozigoto Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Middle aged Idioma: En Ano de publicação: 2020 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: Candidíase Mucocutânea Crônica / Predisposição Genética para Doença / Fator de Transcrição STAT1 / Mutação com Ganho de Função / Heterozigoto Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article