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Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

Autor: Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Clinical Immunology Department, AP-HP, Saint-Louis Hospital, Paris, France., Liu X; Diabetes Center, University of California San Francisco , San Francisco, CA, USA., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Polivka L; Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France.; Reference Center for Mastocytosis (CEREMAST), Necker Hospital for Sick Children, AP-HP , Paris, France., Cederholm A; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden., Berteloot L; Pediatric Radiology Department, Necker Hospital for Sick Children, Imagine Inserm Institute, U1163, AP-HP, Paris, France., Parent AV; Diabetes Center, University of California San Francisco , San Francisco, CA, USA., Pescatore A; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR , Naples, Italy., Spinosa E; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR , Naples, Italy., Minic S; Clinics of Dermatovenerology, Clinical Center of Serbia , Belgrade, Serbia.; School of Medicine, University of Belgrade , Belgrade, Serbia., Kiszewski AE; Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.; Section of Pediatric Dermatology, Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil., Tsumura M; Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan., Thibault C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Esnaola Azcoiti M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Martinovic J; Unit of Fetal Pathology, Hospital Antoine Béclère, Paris Saclay University , Paris, France., Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Khan T; Department of Immunology, Sidra Medicine, Doha, Qatar., Marchal A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Charmeteau-De Muylder B; University of Paris Cité, CNRS, Inserm, Institut Cochin , Paris, France., Bizien L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Hadjem L; Immunophenomics Center (CIPHE), Aix Marseille University, Inserm, CNRS , Marseille, France., Fauvarque MO; University Grenoble Alpes, CEA, Inserm , BGE UA13, Grenoble, France., Dorgham K; Sorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France., Eriksson D; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Falcone EL; Center for Immunity, Inflammation and Infectious Diseases, Montréal Clinical Research Institute (IRCM) , Montréal, Canada.; Department of Medicine, Montréal University, Montréal, Canada., Puel M; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France., Ünal S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Geraldo A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Le Floc'h C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Li H; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Rheault S; Department of Medicine, Montréal University, Montréal, Canada.; Center of Research of the Geriatric University Institute of Montréal, University of Montréal , Montréal, Canada., Muti C; Department of Genetics, André Mignot Hospital, Versailles, France., Bobrie-Moyrand C; Department of Obstetrics and Gynecology, André Mignot Hospital, Versailles, France., Welfringer-Morin A; Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France., Fuleihan RL; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA., Lévy R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France., Roelens M; Imagine Institute, University of Paris Cité , Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France., Gao L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Pellegrini S; Diabetes Research Institute, IRCCS Ospedale San Raffaele , Milan, Italy., Piemonti L; Diabetes Research Institute, IRCCS Ospedale San Raffaele , Milan, Italy., Catherinot E; Department of Respiratory Diseases, Foch Hospital, Suresnes, France., Goffard JC; Internal Medicine, Brussels University Hospital, Free University of Brussels, Anderlecht, Belgium., Fekkar A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; Department of Parasitology Mycology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France., Sacko-Sow A; Department of Pediatrics, Jean Verdier Hospital, AP-HP, Bondy, France., Soudée C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Boucherit S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Has C; Department of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany.; European Reference Network (ERN) for Rare and Undiagnosed Skin Disorders., Hübner S; Department of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany., Blanchard-Rohner G; Unit of Immunology, Vaccinology, and Rheumatology, Division of General Pediatrics, Department of Woman, Child, and Adolescent Medicine, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland., Amador-Borrero B; Internal Medicine Department, Lariboisière Hospital, AP-HP, University of Paris Cité, Paris, France., Utsumi T; Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan., Taniguchi M; Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan., Tani H; Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.; Department of Pediatrics, Hiroshima Prefectural Hospital, Hiroshima, Japan., Izawa K; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Yasumi T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Kanai S; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan., Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Aubart M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; Departments of Pediatric Neurology, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France., Lambert N; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France., Gorochov G; Sorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France.; Department of Immunology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France., Picard C; Imagine Institute, University of Paris Cité , Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Paris, France., Soudais C; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Paris, France., L'Honneur AS; Department of Virology, University of Paris Cité and Cochin Hospital, AP-HP, Paris, France., Rozenberg F; Department of Virology, University of Paris Cité and Cochin Hospital, AP-HP, Paris, France., Milner JD; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA., Zhang SY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Vabres P; MAGEC Reference Center for Rare Skin Diseases, Dijon Bourgogne University Hospital, Dijon, France., Trpinac D; Institute of Histology and Embryology, School of Medicine, University of Belgrade , Belgrade, Serbia., Marr N; Department of Immunology, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University , Doha, Qatar., Boddaert N; Pediatric Radiology Department, Necker Hospital for Sick Children, Imagine Inserm Institute, U1163, AP-HP, Paris, France., Desguerre I; Departments of Pediatric Neurology, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France., Pasparakis M; Institute for Genetics, University of Cologne , Cologne, Germany., Miller CN; Diabetes Center, University of California San Francisco , San Francisco, CA, USA., Poziomczyk CS; Private Dermatology Practice , Porto Alegre, Brazil., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Okada S; Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan., Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Cheynier R; University of Paris Cité, CNRS, Inserm, Institut Cochin , Paris, France., Zhang Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Steffann J; Department of Genomic Medicine, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France., Fusco F; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR , Naples, Italy., Ursini MV; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR , Naples, Italy., Hadj-Rabia S; Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France., Bodemer C; Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France., Luche H; Immunophenomics Center (CIPHE), Aix Marseille University, Inserm, CNRS , Marseille, France., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Courtois G; University Grenoble Alpes, CEA, Inserm , BGE UA13, Grenoble, France., Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France., Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden., Anderson MS; Diabetes Center, University of California San Francisco , San Francisco, CA, USA., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute , New York, NY, USA.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2024 Nov 04; Vol. 221 (11). Date of Electronic Publication: 2024 Oct 01.

A Randomized, Double-Blind, Placebo-Controlled, Short-Term Monotherapy Study of MK-6186, an HIV-1 Non-Nucleoside Reverse Transcriptase Inhibitor, in Treatment-Naïve HIV-Infected Participants.

Autor: Schürmann D; Charité Research Organisation, Berlin, Germany.; Charité - Department of Infectious Diseases, Respiratory Medicine and Critical Care, Universitätsmedizin Berlin, Berlin, Germany., Hüser A; Charité Research Organisation, Berlin, Germany., Pfäfflin F; Charité - Department of Infectious Diseases, Respiratory Medicine and Critical Care, Universitätsmedizin Berlin, Berlin, Germany., Cilissen C; Merck & Co., Inc., Rahway, New Jersey, USA., De Lepeleire I; Merck & Co., Inc., Rahway, New Jersey, USA., Larson PJ; Merck & Co., Inc., Rahway, New Jersey, USA., Anderson MS; Merck & Co., Inc., Rahway, New Jersey, USA., Rizk ML; Merck & Co., Inc., Rahway, New Jersey, USA., Hofmann J; Institute of Virology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Däumer M; Seq-IT GmbH & Co.KG, Kaiserslautern, Germany., Stegemann MS; Charité - Department of Infectious Diseases, Respiratory Medicine and Critical Care, Universitätsmedizin Berlin, Berlin, Germany., Stoch SA; Merck & Co., Inc., Rahway, New Jersey, USA., Wagner F; Charité Research Organisation, Berlin, Germany., Iwamoto M; Merck & Co., Inc., Rahway, New Jersey, USA.

Publikováno v: AIDS research and human retroviruses [AIDS Res Hum Retroviruses] 2024 Oct 03. Date of Electronic Publication: 2024 Oct 03.

Mass balance and pharmacokinetic characterization of zavegepant in healthy male subjects.

Autor: Bhardwaj R; Certara, Princeton, New Jersey, USA., Donohue M; Biohaven Pharmaceuticals, Inc., New Haven, Connecticut, USA., Madonia J; Biohaven Pharmaceuticals, Inc., New Haven, Connecticut, USA., Anderson MS; Certara, Princeton, New Jersey, USA., Matschke K; Pfizer Inc., Collegeville, Pennsylvania, USA., Bertz R; Biohaven Pharmaceuticals, Inc., New Haven, Connecticut, USA., Croop R; Biohaven Pharmaceuticals, Inc., New Haven, Connecticut, USA., Liu J; Pfizer Inc., Groton, Connecticut, USA.

Publikováno v: Clinical and translational science [Clin Transl Sci] 2024 Oct; Vol. 17 (10), pp. e70015.

Partial Lipodystrophy Affecting the Extremities in a Young Woman With Autoimmune Polyglandular Syndrome 1.

Autor: Agarwal S; Division of Endocrinology, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, TX 75390-8537, USA., Bodansky A; Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94158, USA., Xing C; McDermott Center for Human Growth and Development, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Lyda Hill Department of Bioinformatics, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Peter O'Donnell Jr. School of Public Health, UT Southwestern Medical Center, Dallas, TX 75390, USA., Anderson MS; Diabetes Center, University of California, San Francisco, San Francisco, CA 94143, USA., Garg A; Division of Endocrinology, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, TX 75390-8537, USA.; Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX 75390, USA.

Publikováno v: JCEM case reports [JCEM Case Rep] 2024 Sep 24; Vol. 2 (10), pp. luae166. Date of Electronic Publication: 2024 Sep 24 (Print Publication: 2024).