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A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.
Burns, Charlotte; Cheung, Abigail; Stark, Zornitza; Choo, Sharon; Downie, Lilian; White, Sue; Conyers, Rachel; Cole, Theresa.
Afiliação
  • Burns C; The Children's Cancer Centre, The Royal Children's Hospital, Melbourne, Australia. Electronic address: Charlotte.burns@rch.org.au.
  • Cheung A; The Department of Immunology, The Royal Children's Hospital, Melbourne, Australia.
  • Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Choo S; The Department of Immunology, The Royal Children's Hospital, Melbourne, Australia.
  • Downie L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • White S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; University of Melbourne, Melbourne, Australia.
  • Conyers R; The Children's Cancer Centre, The Royal Children's Hospital, Melbourne, Australia.
  • Cole T; The Department of Immunology, The Royal Children's Hospital, Melbourne, Australia.
J Allergy Clin Immunol Pract ; 4(4): 777-9, 2016.
Article em En | MEDLINE | ID: mdl-27117246
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Transplante de Células-Tronco / Fator de Transcrição STAT1 / Mutação com Perda de Função / Homozigoto / Inflamação Limite: Humans / Infant / Male Idioma: En Revista: J Allergy Clin Immunol Pract Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Transplante de Células-Tronco / Fator de Transcrição STAT1 / Mutação com Perda de Função / Homozigoto / Inflamação Limite: Humans / Infant / Male Idioma: En Revista: J Allergy Clin Immunol Pract Ano de publicação: 2016 Tipo de documento: Article