C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.

Autor: 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, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Laboratoire d'Immunologie, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, Strasbourg, France., 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, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Laboratoire d'Immunologie, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, Strasbourg, France., 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, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Laboratoire d'Immunologie, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, Strasbourg, France., 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 Freiburg, Freiburg, Germany.

Publikováno v: Clinical immunology (Orlando, Fla.) [Clin Immunol] 2023 Nov; Vol. 256, pp. 109777. Date of Electronic Publication: 2023 Sep 22.

Evaluation of the thicknesses of cartilage and enthesis in familial Mediterranean fever and enthesitis-related arthritis.

Autor: Kisaarslan AP; Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri, Turkey., Sozeri B; Department of Pediatric Rheumatology, Umraniye Training and Research Hospital, Istanbul, Turkey., Sahin N; Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri, Turkey., Cicek SO; Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri, Turkey., Gunduz Z; Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri, Turkey., Poyrazoglu H; Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri, Turkey., Dusunsel R; Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri, Turkey.

Publikováno v: Northern clinics of Istanbul [North Clin Istanb] 2020 Jun 17; Vol. 7 (6), pp. 591-596. Date of Electronic Publication: 2020 Jun 17 (Print Publication: 2020).