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Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.

Autor: Sharma M; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada., Leung D; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Momenilandi M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France., Jones LCW; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada., Pacillo L; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Academic Dept. of Pediatrics (DPUO), Unit of Clinical Immunology and Vaccinology, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy., James AE; Translational Allergic Immunopathology Unit, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) , Bethesda, MD, USA., Murrell JR; Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia , Philadelphia, PA, USA., Delafontaine S; Dept. of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven , Leuven, Belgium.; Dept. of Pediatrics, Pediatric Immunodeficiencies Division, University Hospitals Leuven , Leuven, Belgium., Maimaris J; Institute of Immunity and Transplantation, Division of Infection and Immunity, University College London , London, UK.; Dept. of Immunology, Royal Free London NHS Foundation Trust , London, UK., Vaseghi-Shanjani M; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada., Del Bel KL; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada., Lu HY; Division of Hematology/Oncology, Boston Children's Hospital , Harvard Medical School, Boston, MA, USA.; Dept. of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School , Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard , Cambridge, MA, USA., Chua GT; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Allergy Centre, Union Hospital , Hong Kong, China., Di Cesare S; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy., Fornes O; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Dept. of Medical Genetics, University of British Columbia , Vancouver, Canada., Liu Z; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Di Matteo G; Academic Dept. of Pediatrics (DPUO), Unit of Clinical Immunology and Vaccinology, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy., Fu MP; Dept. of Medical Genetics, The University of British Columbia , Vancouver, Canada.; Genome Science and Technology Program, Faculty of Science, The University of British Columbia , Vancouver, Canada., Amodio D; Academic Dept. of Pediatrics (DPUO), Unit of Clinical Immunology and Vaccinology, IRCCS Bambin Gesù Children Hospital, Rome, Italy., Tam IYS; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Chan GSW; Dept. of Pathology, Queen Mary Hospital , Hong Kong, China., Sharma AA; Dept. of Pathology, Emory University , Atlanta, GA, USA., Dalmann J; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada., van der Lee R; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Dept. of Medical Genetics, University of British Columbia , Vancouver, Canada., Blanchard-Rohner G; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Unit of Immunology and Vaccinology, Division of General Pediatrics, Dept. of Woman, Child, and Adolescent Medicine, Geneva University Hospitals and Faculty of Medicine, University of Geneva , Geneva, Switzerland., Lin S; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada., Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France., Richmond PA; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada., Lee JJ; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Genome Science and Technology Graduate Program, University of British Columbia , Vancouver, Canada., Matthews A; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Dept. of Paediatrics, University of Toronto , Toronto, Canada., Seear M; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada., Turvey AK; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada., Philips RL; Molecular Immunology and Inflammation Branch, National Institute of Arthritis, Musculoskeletal and Skin Diseases, NIH , Bethesda, MD, USA., Brown-Whitehorn TF; Dept. of Pediatrics, Division of Allergy and Immunology, Children's Hospital of Philadelphia , Philadelphia, PA, USA., Gray CJ; Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia , Philadelphia, PA, USA., Izumi K; Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia , Philadelphia, PA, USA., Treat JR; Pediatrics, Division of Pediatric Dermatology, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA, USA., Wood KH; Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia , Philadelphia, PA, USA., Lack J; NIAID Collaborative Bioinformatics Resource, NIAID , NIH, Bethesda, MD, USA., Khleborodova A; NIAID Collaborative Bioinformatics Resource, NIAID , NIH, Bethesda, MD, USA., Niemela JE; Immunology Service, Clinical Center, NIH , Bethesda, MD, USA., Yang X; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Liang R; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Kui L; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Dept. of Pediatrics, University of California San Diego , La Jolla, CA, USA., Wong CSM; Dept. of Medicine, Divison of Dermatology, The University of Hong Kong , Hong Kong, China., Poon GWK; Dept. of Paediatrics and Adolescent Medicine, Queen Mary Hospital , Hong Kong, China., Hoischen A; Dept. of Human Genetics, Radboud University Medical Center , Nijmegen, Netherlands., van der Made CI; Dept. of Human Genetics, Radboud University Medical Center , Nijmegen, Netherlands., Yang J; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Chan KW; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Rosa Duque JSD; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Lee PPW; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Ho MHK; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Virtus Medical , Hong Kong, China., Chung BHY; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Le HTM; Pediatric Center, Vinmec Times City International General Hospital , Hanoi, Vietnam., Yang W; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Rohani P; Pediatrics, Pediatric Gastroenterology and Hepatology Research Center, Pediatrics Centre of Excellence, Children's Medical Center, University of Medical Sciences , Tehran, Iran., Fouladvand A; Pediatrics, Allergy and Clinical Immunology, Lorestan University of Medical Sciences , Khoramabad, Iran., Rokni-Zadeh H; Dept. of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences , Zanjan, Iran., Changi-Ashtiani M; School of Mathematics, Institute for Research in Fundamental Sciences , Tehran, Iran., Miryounesi M; Dept. of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences , Tehran, Iran., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, 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., Shahrooei M; Microbiology and Immunology, Laboratory of Clinical Bacteriology and Mycology, KU Leuven , Leuven, Belgium., Finocchi A; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy., Rossi P; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; DPUO, Research Unit of Infectivology and Pediatrics Drugs Development, Bambino Gesù Children Hospital IRCCS , Rome, Italy., Rivalta B; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Academic Dept. of Pediatrics (DPUO), Unit of Clinical Immunology and Vaccinology, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy., Cifaldi C; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS , Rome, Italy., Passarelli C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS , Rome, Italy., Arasi S; Allergy Unit, Area of Translational Research in Pediatric Specialities, Bambino Gesù Children's Hospital, IRCCS , Rome, Italy., Bullens D; Dept. of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven , Leuven, Belgium.; Dept. of Pediatrics, Pediatric Allergy Division, University Hospitals Leuven , Leuven, Belgium., Sauer K; Dept. of Pediatrics, Pediatric Pulmonology Division, AZ Sint-Jan Brugge , Brugge, Belgium.; Dept. of Pediatrics, Pediatric Pulmonology Division, University Hospitals Leuven , Leuven, Belgium., Claeys T; Dept. of Pediatrics, Pediatric Gastroenterology Division, AZ Sint-Jan Brugge , Brugge, Belgium., Biggs CM; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada., Morris EC; Institute of Immunity and Transplantation, Division of Infection and Immunity, University College London , London, UK.; Dept. of Immunology, Royal Free London NHS Foundation Trust , London, UK., Rosenzweig SD; Immunology Service, Clinical Center, NIH , Bethesda, MD, USA., O'Shea JJ; Molecular Immunology and Inflammation Branch, National Institute of Arthritis, Musculoskeletal and Skin Diseases, NIH , Bethesda, MD, USA., Wasserman WW; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada., Bedford HM; Dept. of Paediatrics, University of Toronto , Toronto, Canada.; Genetics Program, North York General Hospital , Toronto, Canada., van Karnebeek CDM; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Depts. of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers , Amsterdam, Netherlands., Palma P; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Academic Dept. of Pediatrics (DPUO), Unit of Clinical Immunology and Vaccinology, IRCCS Bambin Gesù Children Hospital, Rome, Italy., Burns SO; Institute of Immunity and Transplantation, Division of Infection and Immunity, University College London , London, UK.; Dept. of Immunology, Royal Free London NHS Foundation Trust , London, UK., Meyts I; Dept. of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven , Leuven, Belgium.; Dept. of Pediatrics, Pediatric Immunodeficiencies Division, University Hospitals Leuven , Leuven, Belgium., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Lyons JJ; Translational Allergic Immunopathology Unit, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) , Bethesda, MD, USA., Parvaneh N; Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Nguyen ATV; Dept. of Immunology, Allergy and Rheumatology, Division of Primary Immunodeficiency, Vietnam National Children's Hospital , Hanoi, Vietnam., Cancrini C; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy., Heimall J; Dept. of Pediatrics, Division of Allergy and Immunology, Children's Hospital of Philadelphia , Philadelphia, PA, USA., Ahmed H; Faculty of Health Sciences, McMaster University , Hamilton, Canada., McKinnon ML; Dept. of Medical Genetics, University of British Columbia , Vancouver, Canada., Lau YL; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China., Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, 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., Turvey SE; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2023 May 01; Vol. 220 (5). Date of Electronic Publication: 2023 Mar 08.

Histone deacetylase 3 represses cholesterol efflux during CD4 ⁺ T-cell activation.

Autor: Wilfahrt D; Department of Immunology, Mayo Clinic, Rochester, United States., Philips RL; Department of Immunology, Mayo Clinic, Rochester, United States., Lama J; Department of Immunology, Mayo Clinic, Rochester, United States., Kizerwetter M; Department of Immunology, Mayo Clinic, Rochester, United States., Shapiro MJ; Department of Immunology, Mayo Clinic, Rochester, United States., McCue SA; Department of Immunology, Mayo Clinic, Rochester, United States., Kennedy MM; Department of Immunology, Mayo Clinic, Rochester, United States., Rajcula MJ; Department of Immunology, Mayo Clinic, Rochester, United States., Zeng H; Department of Immunology, Mayo Clinic, Rochester, United States.; Division of Rheumatology, Department of Medicine, Mayo Clinic, Rochester, United States., Shapiro VS; Department of Immunology, Mayo Clinic, Rochester, United States.

Publikováno v: ELife [Elife] 2021 Dec 02; Vol. 10. Date of Electronic Publication: 2021 Dec 02.

Translating JAKs to Jakinibs.

Autor: Gadina M; Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892., Chisolm DA; Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892., Philips RL; Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892., McInness IB; Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow G12 8TA, United Kingdom; and., Changelian PS; Aclaris Therapeutics, Inc., Wayne, PA 19087., O'Shea JJ; Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892; john.oshea@nih.gov.

Publikováno v: Journal of immunology (Baltimore, Md. : 1950) [J Immunol] 2020 Apr 15; Vol. 204 (8), pp. 2011-2020.

HDAC3 restrains CD8-lineage genes to maintain a bi-potential state in CD4 ⁺ CD8 ⁺ thymocytes for CD4-lineage commitment.

Autor: Philips RL; Department of Immunology, Mayo Clinic, Rochester, United States., Lee JH; Epigenomics Program, Center for Individualized Medicine, Mayo Clinic, Rochester, United States., Gaonkar K; Department of Health Science Research, Division of Biostatistics and Informatics, Mayo Clinic, Rochester, United States., Chanana P; Department of Health Science Research, Division of Biostatistics and Informatics, Mayo Clinic, Rochester, United States., Chung JY; Department of Immunology, Mayo Clinic, Rochester, United States., Romero Arocha SR; Department of Immunology, Mayo Clinic, Rochester, United States., Schwab A; Department of Immunology, Mayo Clinic, Rochester, United States., Ordog T; Epigenomics Program, Center for Individualized Medicine, Mayo Clinic, Rochester, United States., Shapiro VS; Department of Immunology, Mayo Clinic, Rochester, United States.

Publikováno v: ELife [Elife] 2019 Jan 18; Vol. 8. Date of Electronic Publication: 2019 Jan 18.