ArticleScience (New York, N.Y.)2022
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.
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Article in Science (New York, N.Y.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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49citing papers in PubMed
4.9field-weighted citation impact, top 4% of its field
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Who cites it
49 citing papers in PubMed, 61 citations in OpenAlex.
- Article
- Pyoderma gangrenosum following pelvic and femoral osteotomy in an 8-Year-Old Girl with Cri-du-chat syndrome: A case report.JPRAS open · 2026Article
- A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease-Like Autoinflammatory Syndrome.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Acidic and alkaline conditions enhance Staphylococcus aureus α-toxin pore formation and cytotoxicity.PLoS pathogens · 2026Article
- Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC binding.Nature immunology · 2026Article
- Article
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- Editorial for the Special Issue "Staphylococcal Biology and Pathogenesis".Antibiotics (Basel, Switzerland) · 2026Article
- Adeno-associated virus delivery of anti-alpha toxin monoclonal antibodies confers protection against Staphylococcus aureus infections.PLoS pathogens · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- OTULIN: a master regulator of linear ubiquitin homeostasis in immune signaling, inflammation, and disease.Frontiers in immunology · 2026Review
- IRF4 haploinsufficiency in a multiplex family with Whipple's disease.Journal of human immunity · 2026Article
- Mechanisms outpacing medicine in autoinflammatory diseases.Frontiers in immunology · 2026Review
- Monogenic disorders of the TNF signalling pathway.Nature reviews. Rheumatology · 2026Review
- Human inborn errors of type I interferon-independent intrinsic immunity in nonleukocytic cells.Current opinion in immunology · 2025Review
- The Spectrum of Bacterial Infection in a Large Cohort of Chinese Pediatric Patients with Inborn Errors of Immunity: A Nine-year, Retrospective, Single-center Study.Journal of clinical immunology · 2025Article
- Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency.Journal of human immunity · 2025Article
- Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency.The Journal of experimental medicine · 2025Review
- Human immunity.Journal of human immunity · 2025Article
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Authors and funding
62 authors at 20 institutions in 12 countries.
András N SpaanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0001-5981-7259
Anna-Lena Neehus *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.ORCID 0000-0002-8573-6820
Emmanuel Laplantine *Centre d'Immunologie et des Maladies Infectieuses, INSERM U1135, CNRS ERL8255, Sorbonne University, 75724 Paris, France.ORCID 0000-0002-5916-4654
Frederik Staels *Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0001-5657-9814
Masato Ogishi *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0003-2421-7389
Yoann Seeleuthner *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
Franck Rapaport *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0001-6553-2110
Keenan A LaceyDepartment of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA.ORCID 0000-0002-9242-0170
Erika Van NieuwenhoveLaboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0001-9584-3198
Maya ChrabiehLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
David HumSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0001-5374-321X
Mélanie MigaudLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.ORCID 0000-0003-3062-1214
Araksya IzmiryanImagine Institute, Paris Cité University, 75015 Paris, France.ORCID 0000-0002-6358-6980
Lazaro LorenzoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.ORCID 0000-0001-6648-8684
Tatiana KochetkovSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Dani A C HeesterbeekDepartment of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.ORCID 0000-0003-3100-7275
Bart W BardoelDepartment of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.ORCID 0000-0001-6450-277X
Ashley L DuMontDepartment of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA.ORCID 0000-0002-0280-1624
Kerry DobbsLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20852, USA.ORCID 0000-0002-3432-3137
Solenne ChardonnetPlateforme Post-génomique de la Pitié-Salpêtrière, P3S, UMS Production et Analyse de données en Sciences de la vie et en Santé, PASS, INSERM, Sorbonne University, 75013 Paris, France.ORCID 0000-0001-9968-0074
Søren HeisselProteomics Resource Center, The Rockefeller University, New York, NY 10065, USA.
Timour BaslanCancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Peng ZhangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0002-6129-567X
Rui YangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0003-4427-2158
Dusan BogunovicIcahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Herman F WunderinkDepartment of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.ORCID 0000-0001-9491-0790
Pieter-Jan A HaasDepartment of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.
Henrik MolinaProteomics Resource Center, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0001-8950-4990
Griet Van BuggenhoutDepartment of Human Genetics, KU Leuven, 3000 Leuven, Belgium.
Stanislas LyonnetImagine Institute, Paris Cité University, 75015 Paris, France.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20852, USA.ORCID 0000-0002-8335-0262
Mikko R J SeppänenRare Disease and Pediatric Research Centers, Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, 00260 Helsinki, Finland.ORCID 0000-0001-9733-3650
Robert WeilCentre d'Immunologie et des Maladies Infectieuses, INSERM U1135, CNRS ERL8255, Sorbonne University, 75724 Paris, France.ORCID 0000-0001-5235-0932
Gisela SeminarioCenter for Clinical Immunology, Immunology Group Children's Hospital Ricardo Gutiérrez, C1425EFD Buenos Aires, Argentina.
Héctor Gomez-TelloImmunology Department, Poblano Children's Hospital, 72190 Puebla, Mexico.ORCID 0000-0002-0277-8268
Carine WoutersLaboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0002-6426-8845
Mehrnaz MesdaghiDepartment of Allergy and Clinical Immunology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, 15468-155514 Tehran, Iran.ORCID 0000-0001-7951-0967
Mohammad ShahrooeiClinical and Diagnostic Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.
Xavier BossuytClinical and Diagnostic Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.
Erdal SagDepartment of Pediatric Rheumatology, Hacettepe University, 06230 Ankara, Turkey.ORCID 0000-0002-6542-2656
Rezan TopalogluDepartment of Pediatric Nephrology, Hacettepe University School of Medicine, Hacettepe University, 06230 Ankara, Turkey.ORCID 0000-0002-6423-0927
Seza OzenDepartment of Pediatric Rheumatology, Hacettepe University, 06230 Ankara, Turkey.ORCID 0000-0003-2883-7868
Helen L LeavisDepartment of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.ORCID 0000-0001-8720-3684
Maarten M J van EijkDepartment of Intensive Care Medicine, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.ORCID 0000-0002-9119-8635
Liliana BezrodnikCenter for Clinical Immunology, Immunology Group Children's Hospital Ricardo Gutiérrez, C1425EFD Buenos Aires, Argentina.
Lizbeth Blancas GaliciaImmune Deficiencies Laboratory National Institute of Pediatrics, 04530 Mexico City, Mexico.ORCID 0000-0002-3861-8864
Alain HovnanianImagine Institute, Paris Cité University, 75015 Paris, France.ORCID 0000-0003-3412-7512
Aude NassifCentre Médical, Institut Pasteur, 75724 Paris, France.ORCID 0000-0002-2407-0834
Brigitte Bader-MeunierImagine Institute, Paris Cité University, 75015 Paris, France.ORCID 0000-0001-8476-8196
Bénédicte NevenImagine Institute, Paris Cité University, 75015 Paris, France.
Isabelle MeytsLaboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0003-1214-0302
Rik SchrijversAllergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0002-4261-6220
Anne PuelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0003-2603-0323
Jacinta BustamanteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0002-3439-2482
Ivona AksentijevichInflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892, USA.ORCID 0000-0002-6564-7214
Daniel L KastnerInflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892, USA.ORCID 0000-0001-7188-4550
Victor J TorresDepartment of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA.ORCID 0000-0002-7126-0489
Stéphanie Humblet-Baron *Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0003-4684-069X
Adrian Liston *Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0002-6272-4085
Laurent Abel *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0001-7016-6493
Bertrand Boisson *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0001-5240-3555
Jean-Laurent Casanova *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0002-7782-4169
Inserm · FRRockefeller University · USRega Institute for Medical Research · BEUniversity Medical Center Utrecht · NLHacettepe University · TRKU Leuven · BENew York University · USCentre National de la Recherche Scientifique · FRHospital General de Niños Ricardo Gutierrez · ARNational Human Genome Research Institute · USNational Institute of Allergy and Infectious Diseases · USBabraham Institute · GBHospital Español · MXHoward Hughes Medical Institute · USIcahn School of Medicine at Mount Sinai · USInstitut Pasteur · FRMemorial Sloan Kettering Cancer Center · USShahid Beheshti University of Medical Sciences · IRUniversity of Helsinki · FIUtrecht University · NL
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4MVaccine FacilityP30CA016087 · NCI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI MARK Reid PHILIPS · 1985 to 2026
$83.1MDeveloping, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MRegulation of IgA class switching in the intestinal mucosaP01AI061093 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CASANOVA, JEAN-LAURENT · 2004 to 2021
$29.8MGenetics, Pathophysiology, and Treatment of Recessive Autoinflammatory DiseasesZIAHG200372 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI KASTNER, DANIEL · 2011 to 2025
$27.2MGenetics, Pathophysiology, and Treatment of Dominant Autoinflammatory DiseasesZIAHG200373 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI KASTNER, DANIEL · 2011 to 2024
$21.0MCharacterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2MMechanistic Studies Of The Staphylococcus aureus LukAB CytotoxinR01AI099394 · NIAID · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Victor J. Torres · 2013 to 2026
$6.1MRedefining the role of autophagy in bacterial diseaseR01AI121244 · NIAID · UNIVERSITY OF PENNSYLVANIA · PI Ken Hashigiwa Cadwell · 2017 to 2026
$5.6MContribution of LukED to Staphylococcus aureus pathobiologyR01AI105129 · NIAID · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI TORRES, VICTOR J. · 2014 to 2023
$4.9MHuman ISG15 and USP18 Deficiencies Underlying Type I InterferonopathiesR01AI127372 · NIAID · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Dusan Bogunovic · 2017 to 2026
$4.7MMechanisms of MRSA intestinal colonizationR01AI140754 · NIAID · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI SHOPSIN, BO · 2020 to 2024
$3.5MNCATS NIH HHS UL1 TR001866NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016087NIAID NIH HHS P01 AI061093NIAID NIH HHS R01 AI099394NIAID NIH HHS R01 AI105129NIAID NIH HHS R01 AI121244NIAID NIH HHS R01 AI127372NIAID NIH HHS R01 AI137336NIAID NIH HHS R01 AI140754NIAID NIH HHS R01 AI148963
Abstract
The molecular basis of interindividual clinical variability upon infection with
Indexed as
Bacterial ToxinsCri-du-Chat SyndromeEndopeptidasesHaploinsufficiencyHemolysin ProteinsStaphylococcal InfectionsStaphylococcus aureusHost-Pathogen InteractionsHumansImmunity, CellularNecrosisBacterial ToxinsEndopeptidasesHemolysin ProteinsOTULIN protein, humanstaphylococcal alpha-toxin
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