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Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Li, Yue; Führer, Marita; Bahrami, Ehsan; Socha, Piotr; Klaudel-Dreszler, Maja; Bouzidi, Amira; Liu, Yanshan; Lehle, Anna S; Magg, Thomas; Hollizeck, Sebastian; Rohlfs, Meino; Conca, Raffaele; Field, Michael; Warner, Neil; Mordechai, Slae; Shteyer, Eyal; Turner, Dan; Boukari, Rachida; Belbouab, Reda; Walz, Christoph; Gaidt, Moritz M; Hornung, Veit; Baumann, Bernd; Pannicke, Ulrich; Al Idrissi, Eman; Ali Alghamdi, Hamza; Sepulveda, Fernando E; Gil, Marine; de Saint Basile, Geneviève; Hönig, Manfred; Koletzko, Sibylle; Muise, Aleixo M; Snapper, Scott B; Schwarz, Klaus; Klein, Christoph; Kotlarz, Daniel.
Afiliação
  • Li Y; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
  • Führer M; The Institute for Transfusion Medicine, University of Ulm, 89081 Ulm, Germany.
  • Bahrami E; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
  • Socha P; Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, 04730 Warsaw, Poland.
  • Klaudel-Dreszler M; Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, 04730 Warsaw, Poland.
  • Bouzidi A; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
  • Liu Y; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
  • Lehle AS; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
  • Magg T; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
  • Hollizeck S; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
  • Rohlfs M; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
  • Conca R; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Germany.
  • Field M; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA 02115.
  • Warner N; SickKids Inflammatory Bowel Disease Center, Research Institute, Hospital for Sick Children, Toronto, ON M5G1X8, Canada.
  • Mordechai S; Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON M5G1X8, Canada.
  • Shteyer E; Pediatric Gastroenterology, Hadassah University Hospital, Jerusalem 91120, Israel.
  • Turner D; The Juliet Keidan Institute of Pediatric Gastroenterology and Nutrition, Shaare Zedek Medical Center, The Hebrew University of Jerusalem, Jerusalem 91031, Israel.
  • Boukari R; The Juliet Keidan Institute of Pediatric Gastroenterology and Nutrition, Shaare Zedek Medical Center, The Hebrew University of Jerusalem, Jerusalem 91031, Israel.
  • Belbouab R; VEO-IBD Consortium, University Hospital, LMU Munich, 80337 Munich, Germany.
  • Walz C; Pediatric Department, University Hospital Center Mustapha Bacha, 16000 Algiers, Algeria.
  • Gaidt MM; Pediatric Department, University Hospital Center Mustapha Bacha, 16000 Algiers, Algeria.
  • Hornung V; Institute of Pathology, Faculty of Medicine, LMU Munich, 80336 Munich, Germany.
  • Baumann B; Gene Center, LMU Munich, 81337 Munich, Germany.
  • Pannicke U; Department of Biochemistry, LMU Munich, 81377 Munich, Germany.
  • Al Idrissi E; Gene Center, LMU Munich, 81337 Munich, Germany.
  • Ali Alghamdi H; Department of Biochemistry, LMU Munich, 81377 Munich, Germany.
  • Sepulveda FE; Institute of Physiological Chemistry, University of Ulm, 89081 Ulm, Germany.
  • Gil M; The Institute for Transfusion Medicine, University of Ulm, 89081 Ulm, Germany.
  • de Saint Basile G; Allergy and Immunology Section, King Fahad Medical City, Children Specialized Hospital, 11525 Riyadh, Saudi Arabia.
  • Hönig M; Allergy and Immunology Section, King Fahad Medical City, Children Specialized Hospital, 11525 Riyadh, Saudi Arabia.
  • Koletzko S; Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France.
  • Muise AM; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, 75015 Paris, France.
  • Snapper SB; Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France.
  • Schwarz K; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, 75015 Paris, France.
  • Klein C; Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France.
  • Kotlarz D; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, 75015 Paris, France.
Proc Natl Acad Sci U S A ; 116(3): 970-975, 2019 01 15.
Article em En | MEDLINE | ID: mdl-30591564

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Inflamatórias Intestinais / Diferenciação Celular / Imunodeficiência Combinada Severa / Imunidade nas Mucosas / Proteína Serina-Treonina Quinases de Interação com Receptores / Mucosa Intestinal Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Inflamatórias Intestinais / Diferenciação Celular / Imunodeficiência Combinada Severa / Imunidade nas Mucosas / Proteína Serina-Treonina Quinases de Interação com Receptores / Mucosa Intestinal Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article