Your browser doesn't support javascript.
loading
Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation.
Bergbreiter, Astrid; Jaeger, Teresa; Karle, Antje; Bitzinger, Diane; Ettl, Tobias; Spanier, Gerrit; Jägle, Herbert; Neu, Reiner; Söder, Yorick; Evert, Matthias; Reichert, Torsten E; Berneburg, Mark; Brochhausen, Christoph; Schreml, Julia; Fliegauf, Manfred; Salzer, Ulrich; Redel, Andreas; Schreml, Stephan.
Afiliação
  • Bergbreiter A; Department of Dermatology, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Jaeger T; Department of Dermatology, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Karle A; Department of Anaesthesiology, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Bitzinger D; Department of Anaesthesiology, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Ettl T; Department of Maxillofacial Surgery, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Spanier G; Department of Maxillofacial Surgery, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Jägle H; Department of Ophthalmology, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Neu R; Department of Cardiothoracic Surgery, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Söder Y; Department of Surgery, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Evert M; Institute of Pathology, University of Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Reichert TE; Department of Maxillofacial Surgery, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Berneburg M; Department of Dermatology, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Brochhausen C; Institute of Pathology, University of Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.
  • Schreml J; Institute of Human Genetics, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.
  • Fliegauf M; Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Breisacherstr. 115, 79106, Freiburg, Germany.
  • Salzer U; Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Breisacherstr. 115, 79106, Freiburg, Germany.
  • Redel A; Department of Anaesthesiology, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany; Department of Anaesthesiology, St. Marien Hospital Amberg, Mariahilfbergweg 7, 92224, Amberg, Germany.
  • Schreml S; Department of Dermatology, University Medical Center Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany. Electronic address: stephan@schreml.de.
Eur J Med Genet ; 64(3): 104144, 2021 Mar.
Article em En | MEDLINE | ID: mdl-33486103
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Celulite (Flegmão) / Mutação da Fase de Leitura / Pioderma Gangrenoso / Subunidade p50 de NF-kappa B / Doenças da Imunodeficiência Primária Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Celulite (Flegmão) / Mutação da Fase de Leitura / Pioderma Gangrenoso / Subunidade p50 de NF-kappa B / Doenças da Imunodeficiência Primária Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha