The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.


Journal

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

Informations de publication

Date de publication:
Mar 2024
Historique:
medline: 4 3 2024
pubmed: 29 2 2024
entrez: 29 2 2024
Statut: ppublish

Résumé

We describe humans with rare biallelic loss-of-function

Identifiants

pubmed: 38422122
doi: 10.1126/science.adh4059
doi:

Substances chimiques

Receptors, Antigen, T-Cell, alpha-beta 0
pre-T cell receptor alpha 0
Membrane Glycoproteins 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

eadh4059

Subventions

Organisme : NIDDK NIH HHS
ID : R01 DK127044
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States

Auteurs

Marie Materna (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.

Ottavia M Delmonte (OM)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Marita Bosticardo (M)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Mana 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.

Peyton E Conrey (PE)

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

Bénédicte Charmeteau-De Muylder (B)

University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.

Clotilde Bravetti (C)

Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.
Sorbonne University, Paris Cancer Institute CURAMUS, INSERM U1138, Paris, France.

Rebecca Bellworthy (R)

Deptartment of Human Genetics, Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC, Canada.

Axel Cederholm (A)

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

Frederik Staels (F)

Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.

Christian A Ganoza (CA)

Centogene GmbH, Rostock, Germany.

Samuel Darko (S)

Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Samir Sayed (S)

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

Corentin Le Floc'h (C)

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.

Masato Ogishi (M)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

Darawan Rinchai (D)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

Andrea Guenoun (A)

Department of Human Immunology, Sidra Medicine, Doha, Qatar.

Taushif Khan (T)

Department of Human Immunology, Sidra Medicine, Doha, Qatar.
The Jackson Laboratory, Farmington, CT, USA.

Adrian Gervais (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.

Renate Krüger (R)

Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

Mirjam Völler (M)

Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

Boaz Palterer (B)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Mahnaz Sadeghi-Shabestari (M)

Immunology Research Center, TB and Lung Disease Research Center, Mardaniazar Children Hospital, Tabriz University of Medical Science, Tabriz, Iran.

Anne Langlois de Septenville (A)

Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.

Chaim A Schramm (CA)

Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Sanjana Shah (S)

Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

John J Tello-Cajiao (JJ)

Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Francesca Pala (F)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Kayla Amini (K)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Jose S Campos (JS)

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

Noemia Santana Lima (NS)

Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Daniel Eriksson (D)

Department of Immunology, Genetics and Pathology, Uppsala University and University Hospital, Section of Clinical Genetics, Uppsala, Sweden.

Romain Lévy (R)

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.
Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.

Yoann Seeleuthner (Y)

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.

Soma Jyonouchi (S)

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

Manar Ata (M)

Department of Human Immunology, Sidra Medicine, Doha, Qatar.

Fatima Al Ali (F)

Department of Human Immunology, Sidra Medicine, Doha, Qatar.

Caroline Deswarte (C)

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.

Anaïs Pereira (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.

Jérôme Mégret (J)

Cytometry Core Facility, SFR Necker, INSERM US24-CNRS UAR3633, Paris, France.

Tom Le Voyer (T)

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.

Paul Bastard (P)

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.
Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.

Laureline Berteloot (L)

Department of Pediatric Radiology, University Hospital Necker-Enfants Malades, AP-HP, Paris, France.

Michaël Dussiot (M)

Imagine Institute, University of Paris-Cité, Paris, France.
Laboratory of Molecular Mechanisms of Hematological Disorders and Therapeutic Implications, INSERM UMR 1163, Paris, France.

Natasha Vladikine (N)

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.

Paula P Cardenas (PP)

Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.

Emmanuelle Jouanguy (E)

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.

Mashael Alqahtani (M)

Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Amal Hasan (A)

Department of Translational Research, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.

Thangavel Alphonse Thanaraj (TA)

Department of Genetics and Bioinformatics, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.

Jérémie Rosain (J)

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.

Fahd Al Qureshah (F)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

Vito Sabato (V)

Department of Immunology, Allergology and Rheumatology, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium.

Marie Alexandra Alyanakian (MA)

Immunology Laboratory, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

Marianne Leruez-Ville (M)

Necker Hospital for Sick Children, AP-HP, Paris, France.

Flore Rozenberg (F)

University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.
Virology, Cochin Hospital, AP-HP, APHP-CUP, Paris, France.

Elie Haddad (E)

Department of Pediatrics, Department of Microbiology, Immunology and Infectious Diseases, University of Montreal, CHU Sainte-Justine, Montreal, QC, Canada.

Jose R Regueiro (JR)

Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.

Maria L Toribio (ML)

Immune System Development and Function Unit, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain.

Judith R Kelsen (JR)

Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Mansoor Salehi (M)

Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.

Shahram Nasiri (S)

Department of Pediatric Neurology, Children's Medical Center of Abuzar, Jundishapur University of Medical Sciences, Ahvaz, Iran.

Mehdi Torabizadeh (M)

Golestan Hospital Clinical Research Development Unit, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Hassan Rokni-Zadeh (H)

Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.

Majid Changi-Ashtiani (M)

School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.

Nasimeh Vatandoost (N)

Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.
Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.

Hossein Moravej (H)

Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Seyed Mohammad Akrami (SM)

Medical Genetics Poursina St., Genetic Department, Medical Faculty, Tehran University of Medical Sciences, Tehran, Iran.
Dr. Shahrooei Laboratory, Tehran, Iran.

Mohsen Mazloomrezaei (M)

Dr. Shahrooei Laboratory, Tehran, Iran.

Aurélie Cobat (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.

Isabelle Meyts (I)

Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.

Etsushi Toyofuku (E)

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

Madoka Nishimura (M)

Department of Pediatrics, NHO Kumamoto Medical Center, Kumamoto, Japan.

Kunihiko Moriya (K)

Department of Pediatrics, National Defense Medical College, Saitama, Japan.

Tomoyuki Mizukami (T)

Department of Pediatrics, NHO Kumamoto Medical Center, Kumamoto, Japan.

Kohsuke Imai (K)

Department of Pediatrics, National Defense Medical College, Saitama, Japan.

Laurent Abel (L)

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.

Bernard Malissen (B)

Immunology Center of Marseille-Luminy, Aix Marseille University, Inserm, CNRS, Marseille, France.
Immunophenomics Center (CIPHE), Aix Marseille Université, Inserm, CNRS, Marseille, France.

Fahd Al-Mulla (F)

Department of Genetics and Bioinformatics, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.

Fowzan Sami Alkuraya (FS)

Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Nima Parvaneh (N)

Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

Horst von Bernuth (H)

Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Berlin, Germany.
Labor Berlin GmbH, Department of Immunology, Berlin, Germany.

Christian Beetz (C)

Centogene GmbH, Rostock, Germany.

Frédéric Davi (F)

Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.
Sorbonne University, Paris Cancer Institute CURAMUS, INSERM U1138, Paris, France.

Daniel C Douek (DC)

Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Rémi Cheynier (R)

University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.

David Langlais (D)

Deptartment of Human Genetics, Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC, Canada.

Nils 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.

Nico Marr (N)

Department of Human Immunology, Sidra Medicine, Doha, Qatar.
College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.

Tomohiro Morio (T)

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

Mohammad Shahrooei (M)

Dr. Shahrooei Laboratory, Tehran, Iran.
Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium.

Rik Schrijvers (R)

Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.

Sarah E Henrickson (SE)

Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Institute for Immunology and Immune Health, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Department of Microbiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Hervé Luche (H)

Immunophenomics Center (CIPHE), Aix Marseille Université, Inserm, CNRS, Marseille, France.

Luigi D Notarangelo (LD)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Jean-Laurent 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.
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, The Rockefeller University, New York, NY, USA.

Vivien 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.

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