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A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome.
Nabhani, Schafiq; Hönscheid, Andrea; Oommen, Prasad T; Fleckenstein, Bernhard; Schaper, Jörg; Kuhlen, Michaela; Laws, Hans-Jürgen; Borkhardt, Arndt; Fischer, Ute.
Afiliação
  • Nabhani S; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany.
  • Hönscheid A; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany.
  • Oommen PT; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany.
  • Fleckenstein B; Department of Clinical and Molecular Virology, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
  • Schaper J; Department of Diagnostic and Interventional Radiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Kuhlen M; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany.
  • Laws HJ; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany.
  • Borkhardt A; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany.
  • Fischer U; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany. Electronic address: ute.fischer@med.uni-duesseldorf.de.
Clin Immunol ; 155(2): 231-7, 2014 Dec.
Article em En | MEDLINE | ID: mdl-25451160

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Proteína Ligante Fas / Receptores de Morte Celular / Síndrome Linfoproliferativa Autoimune / Homozigoto / Mutação Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Proteína Ligante Fas / Receptores de Morte Celular / Síndrome Linfoproliferativa Autoimune / Homozigoto / Mutação Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article