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An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
Ziv, Alma; Werner, Lael; Konnikova, Liza; Awad, Aya; Jeske, Tim; Hastreiter, Maximilian; Mitsialis, Vanessa; Stauber, Tali; Wall, Sarah; Kotlarz, Daniel; Klein, Christoph; Snapper, Scott B; Tzfati, Yehuda; Weiss, Batia; Somech, Raz; Shouval, Dror S.
Afiliación
  • Ziv A; Pediatric Department A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Werner L; Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Konnikova L; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Awad A; Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Jeske T; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Hastreiter M; Division of Newborn Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
  • Mitsialis V; Department of Immunology, University of Pittsburgh, Pittsburgh, PA, USA.
  • Stauber T; Department of Developmental Biology, University of Pittsburgh, Pittsburgh, PA, USA.
  • Wall S; Department of Genetics, The Silberman Institute of Life Science, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Kotlarz D; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
  • Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
  • Snapper SB; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.
  • Tzfati Y; Division of Gastroenterology, Hepatology and Endoscopy, Brigham and Women's Hospital, Boston, MA, USA.
  • Weiss B; Harvard Medical School, Boston, MA, USA.
  • Somech R; Pediatric Department A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Shouval DS; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
J Clin Immunol ; 40(7): 1010-1019, 2020 10.
Article en En | MEDLINE | ID: mdl-32710398

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Colitis Ulcerosa / ADN Helicasas / Predisposición Genética a la Enfermedad / Síndromes de Inmunodeficiencia / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Clin Immunol Año: 2020 Tipo del documento: Article País de afiliación: Israel

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Colitis Ulcerosa / ADN Helicasas / Predisposición Genética a la Enfermedad / Síndromes de Inmunodeficiencia / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Clin Immunol Año: 2020 Tipo del documento: Article País de afiliación: Israel