Germline mutations in a G protein identify signaling cross-talk in T cells.


Journal

Science (New York, N.Y.)
ISSN: 1095-9203
Titre abrégé: Science
Pays: United States
ID NLM: 0404511

Informations de publication

Date de publication:
20 Sep 2024
Historique:
medline: 20 9 2024
pubmed: 20 9 2024
entrez: 19 9 2024
Statut: ppublish

Résumé

Humans with monogenic inborn errors responsible for extreme disease phenotypes can reveal essential physiological pathways. We investigated germline mutations in

Identifiants

pubmed: 39298586
doi: 10.1126/science.add8947
doi:

Substances chimiques

Receptors, Antigen, T-Cell 0
Proto-Oncogene Proteins c-akt EC 2.7.11.1
ras Proteins EC 3.6.5.2
Phosphatidylinositol 3-Kinases EC 2.7.1.-

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

eadd8947

Auteurs

Hyoungjun Ham (H)

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.
Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA.

Huie Jing (H)

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.

Ian T Lamborn (IT)

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.
Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Megan M Kober (MM)

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.

Alexey Koval (A)

Department of Cell Physiology and Metabolism, Faculty of Medicine, Translational Research Center in Oncohaematology, University of Geneva, Geneva, Switzerland.

Yamina A Berchiche (YA)

Laboratory of Chemical Biology and Signal Transduction, The Rockefeller University, New York, NY, USA.

D Eric Anderson (DE)

Advanced Mass Spectrometry Facility, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.

Kirk M Druey (KM)

Lung and Vascular Inflammation Section, Laboratory of Allergic Diseases, DIR, NIAID, NIH, Bethesda, MD, USA.

Judith N Mandl (JN)

Lymphocyte Biology Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.

Bertrand Isidor (B)

Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.
L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France.

Carlos R Ferreira (CR)

Skeletal Genomics Unit, Metabolic Medicine Branch, DIR, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, USA.

Alexandra F Freeman (AF)

Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA.

Sundar Ganesan (S)

Biological Imaging Section, Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA.

Meliha Karsak (M)

Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Peter J Mustillo (PJ)

Nationwide Children's Hospital, Columbus, OH, USA.
The Ohio State University College of Medicine, Columbus, OH, USA.

Juliana Teo (J)

Department of Haematology, The Children's Hospital Westmead, Sydney, New South Wales, Australia.

Zarazuela Zolkipli-Cunningham (Z)

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Nicolas Chatron (N)

Service de Génétique, Hospices Civils de Lyon, Lyon, France.
Institut NeuroMyoGène, Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France.

François Lecoquierre (F)

Université de Rouen Normandie, INSERM U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, Rouen, France.

Andrew J Oler (AJ)

Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.

Jana Pachlopnik Schmid (JP)

Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
Pediatric Immunology, University of Zurich, Zurich, Switzerland.

Douglas B Kuhns (DB)

Neutrophil Monitoring Lab, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.

Xuehua Xu (X)

Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA.

Fabian Hauck (F)

Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität (LMU), Munich, Germany.

Waleed Al-Herz (W)

Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait.

Matias Wagner (M)

Institute of Human Genetics, Technical University Munich, School of Medicine and Health, Munich, Germany.
Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
Department of Pediatrics, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University Hospital of Munich, Munich, Germany.

Paulien A Terhal (PA)

Division of Laboratories, Pharmacy and Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

Mari Muurinen (M)

Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.

Vincent Barlogis (V)

APHM, La Timone Children's Hospital, Department of Pediatric Hematology, Immunology, and Oncology, Marseille, France.
Aix-Marseille University, EA 3279 Research Unit, Marseille, France.

Phillip Cruz (P)

Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.

Jeffrey Danielson (J)

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.

Helen Stewart (H)

Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals, NHS Foundation Trust, Headington, Oxford, UK.

Petra Loid (P)

Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.

Sebastian Rading (S)

Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Boris Keren (B)

Genetic Departement, Assistance Publique - Hôpitaux de Paris.Sorbonne University, Paris, France.
SeqOIA Laboratory, FMG2025, Paris, France.

Rolph Pfundt (R)

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.

Kol A Zarember (KA)

Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA.

Katharina Vill (K)

LMU University Hospital, Department of Pediatrics, Division of Pediatric Neurology, iSPZ Hauner MUC - Munich University Center for Children with Medical and Developmental Complexity, Dr. von Hauner Children's Hospital, Munich, Germany.

Lorraine Potocki (L)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Texas Children's Hospital, Houston, TX, USA.

Kenneth N Olivier (KN)

Pulmonary Branch, Division of Intramural Research, DIR, National Heart Lung and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.

Gaetan Lesca (G)

Service de Génétique, Hospices Civils de Lyon, Lyon, France.
Institut NeuroMyoGène, Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France.

Laurence Faivre (L)

Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.
Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est", FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.

Melanie Wong (M)

Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Anne Puel (A)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM U1163, Paris, France.
Imagine Institute, University of Paris Cité, Paris, France.

Janet Chou (J)

Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States.

Maud Tusseau (M)

Genetics Department, Lyon University Hospital, Lyon, France.
The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France.

Niki M Moutsopoulos (NM)

Oral Immunity and Infection Section, DIR, National Institute of Dental and Craniofacial Research (NIDCR), NIH, Bethesda, MD, USA.

Helen F Matthews (HF)

Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.
Molecular Development of the Immune System Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.

Cas Simons (C)

Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.
Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

Ryan J Taft (RJ)

Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.
Illumina, San Diego, CA, USA.

Ariane Soldatos (A)

National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD, USA.

Etienne Masle-Farquhar (E)

Immunogenomics Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.
School of Clinical Medicine, UNSW Sydney, Sydney, NSW, Australia.

Stefania Pittaluga (S)

Laboratory of Pathology, Center for Cancer Research, NCI, NIH, Bethesda, MD, USA.

Robert Brink (R)

St. Vincent's Clinical School, UNSW, Sydney, NSW, Australia.
B Cell Biology Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.

Danielle L Fink (DL)

Neutrophil Monitoring Lab, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.

Heidi H Kong (HH)

Cutaneous Microbiome and Inflammation Section, Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, USA.

Juraj Kabat (J)

Biological Imaging Section, Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA.

Woo Sung Kim (WS)

Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA.

Tatjana Bierhals (T)

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Kazuyuki Meguro (K)

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.

Amy P Hsu (AP)

Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA.

Jingwen Gu (J)

Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.

Jennifer Stoddard (J)

Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, USA.

Benito Banos-Pinero (B)

Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK.

Maria Slack (M)

Division of Allergy and Immunology, Department of Pediatrics, University of Rochester Medical Center and Golisano Children's Hospital, Rochester, NY, USA.

Giampaolo Trivellin (G)

Section on Endocrinology and Genetics (SEGEN), DIR, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA.

Benoît Mazel (B)

Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est", FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon Bourgogne, Dijon, France.

Maarja Soomann (M)

Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.

Samuel Li (S)

Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.

Val J Watts (VJ)

Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, IN, USA.

Constantine A Stratakis (CA)

Section on Endocrinology and Genetics (SEGEN), DIR, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA.

Maria F Rodriguez-Quevedo (MF)

Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA.

Ange-Line Bruel (AL)

Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.
Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.

Marita Lipsanen-Nyman (M)

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Paul Saultier (P)

APHM, La Timone Children's Hospital, Department of Pediatric Hematology, Immunology, and Oncology, Marseille, France.
Aix-Marseille University, INSERM, National Research Institute for Agriculture, Food and Environment (INRAe), Cardiovascular and Nutrition Research Center (C2VN), Marseille, France.

Rashmi Jain (R)

Clinical Immunology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Daphne Lehalle (D)

AP-HP Sorbonne Université, UF de Génétique Clinique, Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, Hôpital Trousseau, Paris, France.

Daniel Torres (D)

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.

Kathleen E Sullivan (KE)

Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Sébastien Barbarot (S)

Department of Dermatology, CHU Nantes, INRAE, UMR 1280, PhAN, Nantes Université, Nantes, France.

Axel Neu (A)

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Yannis Duffourd (Y)

Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.
Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.

Morgan Similuk (M)

Centralized Sequencing Program, DIR, NIAID, NIH, Bethesda, MD, USA.

Kirsty McWalter (K)

GeneDx, Gaithersburg, MD, USA.

Pierre Blanc (P)

SeqOIA Laboratory, FMG2025, Paris, France.

Stéphane Bézieau (S)

Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.
L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France.

Tian Jin (T)

Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA.

Raif S Geha (RS)

Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States.

Jean-Laurent Casanova (JL)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM U1163, Paris, France.
Imagine Institute, University of Paris Cité, Paris, France.
Howard Hughes Medical Institute, New York, NY, USA.
Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.

Outi M Makitie (OM)

Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.

Christian Kubisch (C)

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Martin Zeitz Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Patrick Edery (P)

Service de Génétique, Hospices Civils de Lyon, Lyon, France.
Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France.

John Christodoulou (J)

Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Specialty of Child and Adolescent Health, University of Sydney, Sydney, Australia.

Ronald N Germain (RN)

Lymphocyte Biology Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.

Christopher C Goodnow (CC)

Immunogenomics Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Cellular Genomics Futures Institute, Sydney, NSW, Australia.

Thomas P Sakmar (TP)

Laboratory of Chemical Biology and Signal Transduction, The Rockefeller University, New York, NY, USA.
Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, Stockholm, Sweden.

Daniel D Billadeau (DD)

Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA.

Sébastien Küry (S)

Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.
L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France.

Vladimir L Katanaev (VL)

Department of Cell Physiology and Metabolism, Faculty of Medicine, Translational Research Center in Oncohaematology, University of Geneva, Geneva, Switzerland.
Institute of Life Sciences and Biomedicine, Far Eastern Federal University, Vladivostok, Russia.

Yu Zhang (Y)

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.

Michael J Lenardo (MJ)

Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.
Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Molecular Development of the Immune System Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.

Helen C Su (HC)

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.
Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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