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CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Somekh, Ido; Thian, Marini; Medgyesi, David; Gülez, Nesrin; Magg, Thomas; Gallón Duque, Alejandro; Stauber, Tali; Lev, Atar; Genel, Ferah; Unal, Ekrem; Simon, Amos J; Lee, Yu Nee; Kalinichenko, Artem; Dmytrus, Jasmin; Kraakman, Michael J; Schiby, Ginette; Rohlfs, Meino; Jacobson, Jeffrey M; Özer, Erdener; Akcal, Ömer; Conca, Raffaele; Patiroglu, Türkan; Karakukcu, Musa; Ozcan, Alper; Shahin, Tala; Appella, Eliana; Tatematsu, Megumi; Martinez-Jaramillo, Catalina; Chinn, Ivan K; Orange, Jordan S; Trujillo-Vargas, Claudia Milena; Franco, José Luis; Hauck, Fabian; Somech, Raz; Klein, Christoph; Boztug, Kaan.
Afiliación
  • Somekh I; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany.
  • Thian M; Department of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Medgyesi D; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
  • Gülez N; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Magg T; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Gallón Duque A; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Stauber T; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Lev A; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Genel F; Division of Pediatric Immunology and Allergy, S.B.Ü. Dr. Behçet Uz Children's Education And Research Hospital, Izmir, Turkey.
  • Unal E; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany.
  • Simon AJ; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany.
  • Lee YN; Group of Primary Immunodeficiencies, School of Medicine, University of Antioquia (UdeA), Medellín, Colombia.
  • Kalinichenko A; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
  • Dmytrus J; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel HaShomer, Israel.
  • Kraakman MJ; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
  • Schiby G; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel HaShomer, Israel.
  • Rohlfs M; Division of Pediatric Immunology and Allergy, S.B.Ü. Dr. Behçet Uz Children's Education And Research Hospital, Izmir, Turkey.
  • Jacobson JM; Department of Pediatrics, Division of Pediatric Hematology Oncology and HSCT Unit, Erciyes University, Faculty of Medicine, Melikgazi, Kayseri, Turkey.
  • Özer E; Molecular Biology and Genetic Department, Gevher Nesibe Genom and Stem Cell Institution, Genome and Stem Cell Center (GENKOK), Erciyes University, Melikgazi, Kayseri, Turkey.
  • Akcal Ö; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
  • Conca R; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel HaShomer, Israel.
  • Patiroglu T; Haematology Laboratory.
  • Karakukcu M; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
  • Ozcan A; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel HaShomer, Israel.
  • Shahin T; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
  • Appella E; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Tatematsu M; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Martinez-Jaramillo C; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
  • Chinn IK; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Orange JS; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Trujillo-Vargas CM; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
  • Franco JL; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Hauck F; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Somech R; Department of Pathology, and.
  • Klein C; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany.
  • Boztug K; Radiology Department, Sheba Medical Center, Tel HaShomer, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Blood ; 134(18): 1510-1516, 2019 10 31.
Article en En | MEDLINE | ID: mdl-31501153
Dysregulated immune responses are essential underlying causes of a plethora of pathologies including cancer, autoimmunity, and immunodeficiency. We here investigated 4 patients from unrelated families presenting with immunodeficiency, autoimmunity, and malignancy. We identified 4 distinct homozygous mutations in TNFRSF9 encoding the tumor necrosis factor receptor superfamily member CD137/4-1BB, leading to reduced, or loss of, protein expression. Lymphocytic responses crucial for immune surveillance, including activation, proliferation, and differentiation, were impaired. Genetic reconstitution of CD137 reversed these defects. CD137 deficiency is a novel inborn error of human immunity characterized by lymphocytic defects with early-onset Epstein-Barr virus (EBV)-associated lymphoma. Our findings elucidate a functional role and relevance of CD137 in human immune homeostasis and antitumor responses.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Miembro 9 de la Superfamilia de Receptores de Factores de Necrosis Tumoral / Síndromes de Inmunodeficiencia / Linfoma Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Blood Año: 2019 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Miembro 9 de la Superfamilia de Receptores de Factores de Necrosis Tumoral / Síndromes de Inmunodeficiencia / Linfoma Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Blood Año: 2019 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos