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A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.
Aeschlimann, Florence A; Batu, Ezgi D; Canna, Scott W; Go, Ellen; Gül, Ahmet; Hoffmann, Patrycja; Leavis, Helen L; Ozen, Seza; Schwartz, Daniella M; Stone, Deborah L; van Royen-Kerkof, Annet; Kastner, Daniel L; Aksentijevich, Ivona; Laxer, Ronald M.
Afiliação
  • Aeschlimann FA; Division of Rheumatology, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Batu ED; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.
  • Canna SW; Department of Pediatric Rheumatology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, USA.
  • Go E; Division of Pediatric Rheumatology, Riley Hospital for Children, Indiana University, Indianapolis, Indiana, USA.
  • Gül A; Department of Internal Medicine, Istanbul University, Istanbul, Turkey.
  • Hoffmann P; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Leavis HL; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Ozen S; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.
  • Schwartz DM; Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
  • Stone DL; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • van Royen-Kerkof A; Department of Pediatric Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Laxer RM; Division of Rheumatology, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
Ann Rheum Dis ; 77(5): 728-735, 2018 05.
Article em En | MEDLINE | ID: mdl-29317407

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / NF-kappa B / Doenças Hereditárias Autoinflamatórias / Haploinsuficiência / Proteína 3 Induzida por Fator de Necrose Tumoral alfa Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Ann Rheum Dis Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / NF-kappa B / Doenças Hereditárias Autoinflamatórias / Haploinsuficiência / Proteína 3 Induzida por Fator de Necrose Tumoral alfa Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Ann Rheum Dis Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá