ArticleJournal of human immunity2025
Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency.
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Article in Journal of human immunity, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6citing papers in PubMed
–field-weighted citation impact
What it found
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Who cites it
6 citing papers in PubMed.
- A systems perspective on monoallelic inborn errors of immunity.Nature genetics · 2026Review
- 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
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- OTU deubiquitinases as immune-circuit editors: from human immunopathology to therapeutic prioritization.Frontiers in immunology · 2026Review
- Recent variant discoveries and emerging genetic mechanisms in autoinflammatory diseases.Frontiers in immunology · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors.
Tristan J van der LindenDepartment of Medical Microbiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Rob J W ArtsDepartment of Internal Medicine, Radboud Institute of Molecular Life Sciences and Radboudumc Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, Netherlands.
Catherine M BiggsDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, Canada.
Laleh HabibiImmunology, Asthma, and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Laura Batlle-MasóTranslational Immunology Research Group, Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.
Arjan van LaarhovenDepartment of Internal Medicine, Radboud Institute of Molecular Life Sciences and Radboudumc Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, Netherlands.
Lisette M ScheepmakerDepartment of Medical Microbiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Pariya YousefiDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, Canada.
Andrea C Gómez-RaccioServicio de Inmunología, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina.
Zahra AlizadehImmunology, Asthma, and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Catharina M Mulders-MandersDepartment of Internal Medicine, Radboud Institute of Molecular Life Sciences and Radboudumc Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, Netherlands.
Jaap Ten OeverDepartment of Internal Medicine, Radboud Institute of Molecular Life Sciences and Radboudumc Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, Netherlands.
Janneke Schuurs-HoeijmakersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Nasrin Alipour-OlyeiLaboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S 1109, Plateforme GENOMAX, Institut Thématique Interdisciplinaire de Médecine de Précision de Strasbourg, Transplantex NG, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.
Anne MolitorLaboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S 1109, Plateforme GENOMAX, Institut Thématique Interdisciplinaire de Médecine de Précision de Strasbourg, Transplantex NG, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.
Daniela Di GiovanniServicio de Inmunología, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina.
Raphael CarapitoLaboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S 1109, Plateforme GENOMAX, Institut Thématique Interdisciplinaire de Médecine de Précision de Strasbourg, Transplantex NG, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.
Seiamak BahramLaboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S 1109, Plateforme GENOMAX, Institut Thématique Interdisciplinaire de Médecine de Précision de Strasbourg, Transplantex NG, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.
Gisela SeminarioServicio de Inmunología, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina.
Liliana BezrodnikCenter for Clinical Immunology, Buenos Aires, Argentina.
Mana MomenilandiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Mohammad ShahrooeiClinical and Diagnostic Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Ivona AksentijevichInflammatory Disease Section, National Human Genome Research Institute, Bethesda, USA.
Daniel KastnerInflammatory Disease Section, National Human Genome Research Institute, Bethesda, USA.
Mohammad R FazlollahiImmunology, Asthma, and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Roger ColobranImmunology Division, Genetics Department, Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain.
Stuart E TurveyDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, Canada.
Frank L van de VeerdonkDepartment of Internal Medicine, Radboud Institute of Molecular Life Sciences and Radboudumc Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, Netherlands.
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Bertrand BoissonLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Bart W BardoelDepartment of Medical Microbiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
András N SpaanDepartment of Medical Microbiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MAutosomal dominant OTULIN deficiency and staphylococcal diseaseR21AI159728 · NIAID · ROCKEFELLER UNIVERSITY · PI BOISSON, BERTRAND, SPAAN, ANDRAS NIKO · 2022 to 2023
$466kNCATS NIH HHS UL1 TR001866NIAID NIH HHS R21 AI159728
Abstract
Human OTULIN haploinsufficiency predisposes to life-threatening necrosis of the skin and lungs. Disease is triggered by infectious agents, typically
Indexed as
haploinsufficiencylinear ubiquitinnecrosisOTULINStaphylococcus aureus
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.