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Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.
Keller, Baerbel; Zaidman, Irina; Yousefi, O Sascha; Hershkovitz, Dov; Stein, Jerry; Unger, Susanne; Schachtrup, Kristina; Sigvardsson, Mikael; Kuperman, Amir A; Shaag, Avraham; Schamel, Wolfgang W; Elpeleg, Orly; Warnatz, Klaus; Stepensky, Polina.
Afiliação
  • Keller B; Center for Chronic Immunodeficiency (CCI), University Medical Center and University of Freiburg, 79106 Freiburg, Germany.
  • Zaidman I; Department of Pediatric Hematology Oncology, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Yousefi OS; Center for Chronic Immunodeficiency (CCI), University Medical Center and University of Freiburg, 79106 Freiburg, Germany Department of Molecular Immunology, Faculty of Biology, BIOSS Centre for Biological Signalling Studies, University of Freiburg, 79104 Freiburg, Germany Spemann Graduate School of
  • Hershkovitz D; Department of Pathology, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Stein J; Department of Pediatric Hematology Oncology and Bone Marrow Transplantation Unit, Schneider Children's Medical Center of Israel, Petah-Tikva 49202, Israel.
  • Unger S; Center for Chronic Immunodeficiency (CCI), University Medical Center and University of Freiburg, 79106 Freiburg, Germany.
  • Schachtrup K; Center for Chronic Immunodeficiency (CCI), University Medical Center and University of Freiburg, 79106 Freiburg, Germany.
  • Sigvardsson M; Department of Clinical and Experimental Medicine, Experimental Hematopoiesis Unit, Faculty of Health Sciences, Linköping University, 581 85 Linköping, Sweden.
  • Kuperman AA; Blood Coagulation Service and Pediatric Hematology Clinic, Galilee Medical Center, Nahariya 22100, Israel Faculty of Medicine in the Galilee, Bar-Ilan University, Safed 5290002, Israel.
  • Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University, Jerusalem 91120, Israel.
  • Schamel WW; Center for Chronic Immunodeficiency (CCI), University Medical Center and University of Freiburg, 79106 Freiburg, Germany Department of Molecular Immunology, Faculty of Biology, BIOSS Centre for Biological Signalling Studies, University of Freiburg, 79104 Freiburg, Germany.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University, Jerusalem 91120, Israel.
  • Warnatz K; Center for Chronic Immunodeficiency (CCI), University Medical Center and University of Freiburg, 79106 Freiburg, Germany klaus.warnatz@uniklinik-freiburg.de polina@hadassah.org.il.
  • Stepensky P; Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University, Jerusalem 91120, Israel Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah Medical Center, Hebrew University, Jerusalem 91120, Israel klaus.warnatz@uniklinik-freib
J Exp Med ; 213(7): 1185-99, 2016 06 27.
Article em En | MEDLINE | ID: mdl-27242165
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Imunodeficiência Combinada Severa / Sinalização do Cálcio / Proteínas Adaptadoras de Transdução de Sinal / Homozigoto / Proteínas de Membrana / Mutação Limite: Female / Humans / Male Idioma: En Revista: J Exp Med Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Imunodeficiência Combinada Severa / Sinalização do Cálcio / Proteínas Adaptadoras de Transdução de Sinal / Homozigoto / Proteínas de Membrana / Mutação Limite: Female / Humans / Male Idioma: En Revista: J Exp Med Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha