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Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
Somekh, Ido; Marquardt, Benjamin; Liu, Yanshan; Rohlfs, Meino; Hollizeck, Sebastian; Karakukcu, Musa; Unal, Ekrem; Yilmaz, Ebru; Patiroglu, Turkan; Cansever, Murat; Frizinsky, Shirly; Vishnvenska-Dai, Vicktoria; Rechavi, Erez; Stauber, Tali; Simon, Amos J; Lev, Atar; Klein, Christoph; Kotlarz, Daniel; Somech, Raz.
Afiliação
  • Somekh I; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University, Munich, Germany.
  • Marquardt B; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University, Munich, Germany.
  • Liu Y; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University, Munich, Germany.
  • Rohlfs M; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University, Munich, Germany.
  • Hollizeck S; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University, Munich, Germany.
  • Karakukcu M; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Erciyes University, Kayseri, Turkey.
  • Unal E; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Erciyes University, Kayseri, Turkey.
  • Yilmaz E; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Erciyes University, Kayseri, Turkey.
  • Patiroglu T; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Erciyes University, Kayseri, Turkey.
  • Cansever M; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Erciyes University, Kayseri, Turkey.
  • Frizinsky S; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Vishnvenska-Dai V; Ocular Oncology and Autoimmune center, The Goldschleger Eye Institute; Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Rechavi E; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Stauber T; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Simon AJ; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Lev A; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Klein C; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University, Munich, Germany.
  • Kotlarz D; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University, Munich, Germany.
  • Somech R; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. raz.somech@sheba.health.gov.il.
J Clin Immunol ; 38(6): 699-710, 2018 08.
Article em En | MEDLINE | ID: mdl-30030704
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Infecções por Vírus Epstein-Barr / Fatores de Troca do Nucleotídeo Guanina / Suscetibilidade a Doenças / Proteínas de Ligação a DNA / Imunomodulação / Síndromes de Imunodeficiência / Linfoma / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Clin Immunol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Infecções por Vírus Epstein-Barr / Fatores de Troca do Nucleotídeo Guanina / Suscetibilidade a Doenças / Proteínas de Ligação a DNA / Imunomodulação / Síndromes de Imunodeficiência / Linfoma / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Clin Immunol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Holanda