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Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans.
Schipp, Cyrill; Nabhani, Schafiq; Bienemann, Kirsten; Simanovsky, Natalia; Kfir-Erenfeld, Shlomit; Assayag-Asherie, Nathalie; Oommen, Prasad T; Revel-Vilk, Shoshana; Hönscheid, Andrea; Gombert, Michael; Ginzel, Sebastian; Schäfer, Daniel; Laws, Hans-Jürgen; Yefenof, Eitan; Fleckenstein, Bernhard; Borkhardt, Arndt; Stepensky, Polina; Fischer, Ute.
Afiliação
  • Schipp C; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Nabhani S; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Bienemann K; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Simanovsky N; Department of Radiology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
  • Kfir-Erenfeld S; The Lautenberg Research Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
  • Assayag-Asherie N; The Lautenberg Research Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
  • Oommen PT; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Revel-Vilk S; Pediatric Hematology Oncology and Bone Marrow Transplantation Department, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
  • Hönscheid A; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Gombert M; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Ginzel S; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany Department of Computer Science, Bonn-Rhine-Sieg University of Applied Sciences, Sankt Augustin, Germany.
  • Schäfer D; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Laws HJ; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Yefenof E; The Lautenberg Research Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
  • Fleckenstein B; Department of Clinical and Molecular Virology, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.
  • Borkhardt A; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Stepensky P; Pediatric Hematology Oncology and Bone Marrow Transplantation Department, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
  • Fischer U; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany ute.fischer@med.uni-duesseldorf.de.
Haematologica ; 101(10): e392-e396, 2016 10.
Article em En | MEDLINE | ID: mdl-27365489

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Subunidade p50 de NF-kappa B / Mutação com Perda de Função / Síndromes de Imunodeficiência Limite: Adult / Female / Humans Idioma: En Revista: Haematologica Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Subunidade p50 de NF-kappa B / Mutação com Perda de Função / Síndromes de Imunodeficiência Limite: Adult / Female / Humans Idioma: En Revista: Haematologica Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha