Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.

Autor: David C; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Paris, France., Arango-Franco CA; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; Department of Microbiology and Parasitology, Group of Primary Immunodeficiencies, School of Medicine, University of Antioquia, Medellín, Colombia., Badonyi M; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh , Edinburgh, UK., Fouchet J; Faculté de Médecine Necker, Institut Necker Enfants Malades, INSERM U1151-CNRS UMR 8253, Université Paris Cité, Paris, France., Rice GI; Faculty of Biology, Medicine and Health, Division of Evolution and Genomic Sciences, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Didry-Barca B; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Paris, France., Maisonneuve L; Faculté de Médecine Necker, Institut Necker Enfants Malades, INSERM U1151-CNRS UMR 8253, Université Paris Cité, Paris, France., Seabra L; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Paris, France., Kechiche R; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Paris, France.; Department of Paediatric Hematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, Assistance publique-hôpitaux de Paris (AP-HP), Paris, France., Masson C; Bioinformatics Core Facility, Université Paris Cité-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France., Cobat A; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Imagine Institute, Université Paris Cité , Paris, France., Abel L; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Imagine Institute, Université Paris Cité , Paris, France., Talouarn E; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Université Paris Cité , Paris, France., Béziat V; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Imagine Institute, Université Paris Cité , Paris, France., Deswarte C; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Université Paris Cité , Paris, France., Livingstone K; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh , Edinburgh, UK., Paul C; Université Toulouse Paul Sabatier , Toulouse, France., Malik G; Paediatric Rheumatology, Royal Aberdeen Children's Hospital, Aberdeen, UK., Ross A; Paediatric Rheumatology, Royal Aberdeen Children's Hospital, Aberdeen, UK., Adam J; Paediatric Rheumatology, Royal Aberdeen Children's Hospital, Aberdeen, UK., Walsh J; Department of Paediatric Rheumatology, Royal Hospital for Children, Glasgow, UK., Kumar S; Department of Pediatrics, Pediatric Rheumatology, Christian Medical College, Vellore, India., Bonnet D; Medical and Surgical Unit of Congenital and Paediatric Cardiology, Reference Centre for Complex Congenital Heart Defects-M3C, University Hospital Necker-Enfants Malades, Paris, France.; Université Paris Cité , Paris, France., Bodemer C; Department of Dermatology, Hospital Necker-Enfants Malades, AP-HP. Université Paris Cité, Paris, France., Bader-Meunier B; Department of Paediatric Hematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, Assistance publique-hôpitaux de Paris (AP-HP), Paris, France.; Centre for Inflammatory Rheumatism, AutoImmune Diseases and Systemic Interferonopathies in Children (RAISE) , Paris, France., Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh , Edinburgh, UK., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Imagine Institute, Université Paris Cité , Paris, France.; Howard Hughes Medical Institute , New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France., Crow YJ; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Paris, France.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh , Edinburgh, UK.; Université Paris Cité , Paris, France., Manoury B; Faculté de Médecine Necker, Institut Necker Enfants Malades, INSERM U1151-CNRS UMR 8253, Université Paris Cité, Paris, France., Frémond ML; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Paris, France.; Department of Paediatric Hematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, Assistance publique-hôpitaux de Paris (AP-HP), Paris, France.; Centre for Inflammatory Rheumatism, AutoImmune Diseases and Systemic Interferonopathies in Children (RAISE) , Paris, France., Bohlen J; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Université Paris Cité , Paris, France., Lepelley A; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Paris, France.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2024 Aug 05; Vol. 221 (8). Date of Electronic Publication: 2024 Jun 13.

Chilblains as a non-specific skin eruption in a patient with myelodysplastic neoplasm.

Autor: Shiraishi K; Department of Dermatology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan., Miyazaki Y; Department of Haematology, Clinical Immunology and Infectious Diseases, Ehime University Graduate School of Medicine, Toon, Ehime, Japan., Kohri N; Department of Dermatology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan., Yoshida S; Department of Dermatology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan., Yatsuzuka K; Department of Dermatology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan., Muto J; Department of Dermatology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan., Murakami M; Department of Dermatology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan., Fujisawa Y; Department of Dermatology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.

Publikováno v: European journal of dermatology : EJD [Eur J Dermatol] 2024 Jun 01; Vol. 34 (3), pp. 298-300.

Idiopathic Chilblains.

Autor: Alhassan E; From the Division of Rheumatology, Department of Medicine, University of Southern California Keck School of Medicine, Los Angeles, CA.

Publikováno v: Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases [J Clin Rheumatol] 2024 Mar 01; Vol. 30 (2), pp. e64. Date of Electronic Publication: 2023 Aug 24.

An illustrative case of pseudo-chilblains in tropical Singapore: what is its significance?

Autor: Ho WYB; Dermatology, National Skin Centre, Tan Tock Seng Hospital, Singapore., Lee WT; Department of Emergency Medicine, Tan Tock Seng Hospital, Singapore., Ng SW; Department of Internal Medicine, Tan Tock Seng Hospital, Singapore., Lim SPB; Department of Endocrinology, Tan Tock Seng Hospital, Singapore., Lim HJ; Dermatology, National Skin Centre, Tan Tock Seng Hospital, Singapore.

Publikováno v: Singapore medical journal [Singapore Med J] 2024 Mar 01; Vol. 65 (Suppl 1), pp. S18-S19. Date of Electronic Publication: 2022 Feb 24.

Chronic chilblain-like lesions occurring during the Covid pandemic: case series.

Autor: Nathan J; Department of Rheumatology, St George's University Hospitals NHS Foundation Trust, London, UK., Rastogi A; Department of Radiology, St George's University Hospitals NHS Foundation Trust, London, UK., Kiely PDW; Department of Rheumatology and Department of Medical and Biomedical Education, St George's University Hospitals NHS Foundation Trust, London, UK. patrick.kiely@nhs.net.

Publikováno v: Clinical and experimental rheumatology [Clin Exp Rheumatol] 2023 Nov; Vol. 41 (11), pp. 2338. Date of Electronic Publication: 2023 May 30.