Your browser doesn't support javascript.
loading
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Kapp, Friedrich G; Kretschmer, Stefanie; Beckmann, Cora C A; Wäsch, Lena; Molitor, Anne; Carapito, Raphaël; Schubert, Mario; Lucas, Nadja; Conrad, Solène; Poignant, Sylvaine; Isidor, Bertrand; Rohlfs, Meino; Kisaarslan, Aysenur Paç; Schanze, Denny; Zenker, Martin; Schmitt-Graeff, Annette; Strahm, Brigitte; Peters, Anke; Yoshimi, Ayami; Driever, Wolfgang; Zillinger, Thomas; Günther, Claudia; Maharana, Shovamayee; Guan, Kaomei; Klein, Christoph; Ehl, Stephan; Niemeyer, Charlotte M; Unal, Ekrem; Bahram, Seiamak; Hauck, Fabian; Lee-Kirsch, Min Ae; Speckmann, Carsten.
Affiliation
  • Kapp FG; Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany. Electronic address: friedrich.kapp@uniklinik-freiburg.de.
  • Kretschmer S; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Beckmann CCA; Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
  • Wäsch L; Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
  • Molitor A; Laboratoire d'ImmunoRhumatologie Moléculaire, Institut national de la santé et de la recherche médicale (INSERM) UMR_S 1109, Institut thématique interdisciplinaire (ITI) de Médecine de Précision de Strasbourg, Transplantex NG, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédérati
  • Carapito R; Laboratoire d'ImmunoRhumatologie Moléculaire, Institut national de la santé et de la recherche médicale (INSERM) UMR_S 1109, Institut thématique interdisciplinaire (ITI) de Médecine de Précision de Strasbourg, Transplantex NG, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédérati
  • Schubert M; Institute of Pharmacology and Toxicology, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Lucas N; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Conrad S; Service de Génétique Médicale, CHU Nantes, Nantes, France.
  • Poignant S; Service de pédiatrie, CHU de Nantes, Nantes, France.
  • Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.
  • Rohlfs M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Kisaarslan AP; Erciyes University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Rheumatology, 38039 Melikgazi, Kayseri, Türkiye.
  • Schanze D; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
  • Zenker M; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
  • Schmitt-Graeff A; University of Freiburg, Freiburg, Germany.
  • Strahm B; Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
  • Peters A; Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
  • Yoshimi A; Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
  • Driever W; Developmental Biology, Faculty of Biology, Institute of Biology 1, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.
  • Zillinger T; Institute for Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, 53127 Bonn, Germany.
  • Günther C; Department of Dermatology, Faculty of Medicine, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Maharana S; Department of Microbiology and Cell Biology, Indian Institute of Science, Bengaluru, India.
  • Guan K; Institute of Pharmacology and Toxicology, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.
  • Niemeyer CM; Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
  • Unal E; Erciyes University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology-Oncology, 38039 Melikgazi, Kayseri, Turkey.
  • Bahram S; Laboratoire d'ImmunoRhumatologie Moléculaire, Institut national de la santé et de la recherche médicale (INSERM) UMR_S 1109, Institut thématique interdisciplinaire (ITI) de Médecine de Précision de Strasbourg, Transplantex NG, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédérati
  • Hauck F; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Lee-Kirsch MA; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Speckmann C; Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Faculty of Medicine, Medical Center-University of
Clin Immunol ; 256: 109777, 2023 11.
Article in En | MEDLINE | ID: mdl-37741518
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Health context: 2_ODS3 Database: MEDLINE Main subject: Interferon Type I / Lymphohistiocytosis, Hemophagocytic Limits: Humans / Newborn Language: En Journal: Clin Immunol Year: 2023 Document type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Health context: 2_ODS3 Database: MEDLINE Main subject: Interferon Type I / Lymphohistiocytosis, Hemophagocytic Limits: Humans / Newborn Language: En Journal: Clin Immunol Year: 2023 Document type: Article