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PORpolymorphisms are associated with 21 hydroxylase deficiency

Autor: Pecori Giraldi, F., Einaudi, S., Sesta, A., Verna, F., Messina, M., Manieri, C., Menegatti, E., Ghizzoni, L.

Publikováno v: Journal of Endocrinological Investigation; October 2021, Vol. 44 Issue: 10 p2219-2226, 8p

Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1.

Autor: Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Orlova E; Endocrinology Research Centre, Moscow, Russia., Sozaeva L; Endocrinology Research Centre, Moscow, Russia., Lévy R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris, Paris, France., James A; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Schmitt MM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Ochoa S; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Kareva M; Endocrinology Research Centre, Moscow, Russia., Rodina Y; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Shaw E; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France., Bizien L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France., Ekwall O; Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Rheumatology and Inflammation Research, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, Sweden., Berg S; Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Sweden., Beccuti G; Department of Medical Sciences, University of Turin, Turin, Italy., Ghizzoni L; Department of Medical Sciences, University of Turin, Turin, Italy., Thiriez G; Intensive Care Unit, Besançon Hospital, Besançon, France., Pavot A; Intensive Care Unit, Kremlin-Bicêtre Hospital, Kremlin-Bicêtre, France., Goujard C; Internal Medicine Department, Bicêtre Hospital, Assistance Publique Hôpitaux de Paris, Paris Saclay University, Institut National de la Santé et de la Recherche Médicale U1018, Le Kremlin-Bicêtre, France., Frémond ML; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris, Paris, France.; Laboratory of Neurogenetics and Neuroinflammation, Université de Paris, Imagine Institute, Paris, France., Carter E; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, Edinburgh, UK., Rothenbuhler A; Pediatric Endocrinology Department, Bicêtre Hospital, Assistance Publique Hôpitaux de Paris, Paris Saclay University, Le Kremlin-Bicêtre, France., Linglart A; Pediatric Endocrinology Department, Bicêtre Hospital, Assistance Publique Hôpitaux de Paris, Paris Saclay University, Le Kremlin-Bicêtre, France., Mignot B; Pediatric Medicine Unit, University Hospital of Besançon, Besançon, France., Comte A; Pediatric Medicine Unit, University Hospital of Besançon, Besançon, France., Cheikh N; Pediatric Hematology Unit, University Hospital of Besançon, Besançon, France., Hermine O; University of Paris, Imagine Institute, Paris, France.; Hematology department, University of Paris, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris, Paris, France., Breivik L; Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway., Husebye ES; Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway.; Department of Medicine, Haukeland University Hospital, Bergen, Norway.; Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden., Humbert S; Internal Medicine Unit, Besançon Hospital, Besançon, France., Rohrlich P; Pediatric Hematology and Oncology unit, Centre Hospitalier Universitaire de Nice, Nice, France., Coaquette A; Laboratory of Virology, Besançon Hospital, Besançon, France., Vuoto F; Infectious Disease Unit, Lille Hospital, Lille, France., Faure K; Infectious Disease Unit, Lille Hospital, Lille, France., Mahlaoui N; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris, Paris, France.; Centre de Référence Déficits Immunitaires Héréditaires, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France., Kotnik P; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia., Battelino T; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia., Trebušak Podkrajšek K; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia., Kisand K; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia., Ferré EMN; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., DiMaggio T; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Rosen LB; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Burbelo PD; National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD., McIntyre M; Royal Alexandra Hospital, Paisley, Scotland, UK., Kann NY; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Shcherbina A; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Pavlova M; Department of Endocrinology N°1, Sechenov University, Moscow, Russia., Kolodkina A; Endocrinology Research Centre, Moscow, Russia., Holland SM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Zhang SY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Crow YJ; Laboratory of Neurogenetics and Neuroinflammation, Université de Paris, Imagine Institute, Paris, France.; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, Edinburgh, UK., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Su HC; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Anderson MS; Diabetes Center, University of California, San Francisco, San Francisco, CA., Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Neven B; University of Paris, Imagine Institute, Paris, France.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris, Paris, France., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Howard Hughes Medical Institute, New York, NY., Lionakis MS; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2021 Jul 05; Vol. 218 (7).

Predictors and Trends of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes Mellitus in Malaysian Children.

Autor: Mavinkurve, Meenal¹, Ramzi, Nurul Hanis², Jalaludin, Muhammad Yazid Bin³, Samingan, Nurshadia³, Zaini, Azriyanti Anuar³ azriyanti@ummc.edu.my

Publikováno v: Journal of Clinical Research in Pediatric Endocrinology. Dec2024, Vol. 16 Issue 4, p411-418. 8p.