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A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI).
Lin, Bin; Berard, Roberta; Al Rasheed, Abdulrahman; Aladba, Buthaina; Kranzusch, Philip J; Henderlight, Maggie; Grom, Alexi; Kahle, Dana; Torreggiani, Sofia; Aue, Alexander G; Mitchell, Jacob; de Jesus, Adriana A; Schulert, Grant S; Goldbach-Mansky, Raphaela.
Afiliación
  • Lin B; Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
  • Berard R; Department of Pediatrics, Western University, London, Ontario, Canada.
  • Al Rasheed A; Division of Rheumatology, Pediatric Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Aladba B; Sidra Medical and Research Center, Department of Pediatric Medicine, Division of Rheumatology, Doha, Qatar.
  • Kranzusch PJ; Department of Microbiology, Harvard Medical School, Boston, Mass; Department of Cancer Immunology & Virology, Dana-Farber Cancer Institute, Boston, Mass.
  • Henderlight M; Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
  • Grom A; Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
  • Kahle D; Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
  • Torreggiani S; Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
  • Aue AG; Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
  • Mitchell J; Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
  • de Jesus AA; Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
  • Schulert GS; Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
  • Goldbach-Mansky R; Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md. Electronic address: goldbacr@mail.nih.gov.
J Allergy Clin Immunol ; 146(5): 1204-1208.e6, 2020 11.
Article en En | MEDLINE | ID: mdl-32673614
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Vasculares / Proteínas de la Membrana / Mutación Tipo de estudio: Etiology_studies / Risk_factors_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: J Allergy Clin Immunol Año: 2020 Tipo del documento: Article País de afiliación: Moldova
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Vasculares / Proteínas de la Membrana / Mutación Tipo de estudio: Etiology_studies / Risk_factors_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: J Allergy Clin Immunol Año: 2020 Tipo del documento: Article País de afiliación: Moldova