ArticleThe Journal of experimental medicine2025
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
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Article in The Journal of experimental medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11citing papers in PubMed
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Who cites it
11 citing papers in PubMed.
- Functional diversity of natural humanScience advances · 2026Article
- Azetidine-2-carboxylic acid-induced oligodendrogliopathy in vitro and the pathogenesis of multiple sclerosis.Journal of neuropathology and experimental neurology · 2026Article
- Guideline for the Diagnosis and Management of Heritable IFNAR1 Deficiency in Oceania.Journal of paediatrics and child health · 2026Review
- Emerging strategies to reduce the side effects of CAR-T cell therapy: focusing on gene editing and nanotechnology.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- Autoantibodies neutralizing type I IFNs in a fatal case of H5N1 avian influenza.The Journal of experimental medicine · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- The seven enigmas of SARS-CoV-2: from the past to the future.Journal of human immunity · 2025Article
- The potential impacts of human genetics on virus emergence.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Interferons in health and disease.Cell · 2025Review
- Modulation ofFrontiers in immunology · 2025Article
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Authors and funding
42 authors.
Fahd Al QureshahSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-5022-9917
Jérémie Le PenLaboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-7025-9526
Nicole A de WeerdCentre for Innate Immunity and Infectious Diseases, Department of Molecular and Translational Science, Hudson Institute of Medical Research and Monash University, Clayton, Australia.ORCID 0000-0002-7985-189X
Marcela Moncada-VelezSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-3073-5345
Marie Materna *Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-2145-5285
Daniel C Lin *St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0003-3081-8594
Baptiste MilisavljevicSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0009-0007-1586-5786
Fernanda ViannaLaboratório de Medicina Genômica Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.ORCID 0000-0001-6339-4869
Lucy BizienLaboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-9163-9122
Lazaro LorenzoLaboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-6648-8684
Marc LecuitUniversité Paris Cité, Imagine Institute , Paris, France.ORCID 0000-0002-4491-1063
Jean-David PommierBiology of Infection Unit, Institut Pasteur, Inserm U1117, Université Paris Cité, Paris, France.ORCID 0000-0001-9154-7607
Sevgi KelesDivision of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.ORCID 0000-0001-7344-8947
Tayfun OzcelikDepartment of Molecular Biology and Genetics, Bilkent University, Bilkent-Ankara, Turkey.ORCID 0000-0001-5937-1082
Sigifredo Pedraza-SanchezUnit of Biochemistry, National Institute for Medical Sciences and Nutrition Salvador Zubiran (INCMNSZ) , Mexico City, Mexico.ORCID 0000-0002-7062-6979
Nicolas de ProstService de Médecine Intensive Réanimation, Hôpitaux Universitaires Henri Mondor, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.ORCID 0000-0002-4833-4320
Loubna El ZeinBiology Department, Lebanese University, Beirut, Lebanon.ORCID 0000-0003-2393-1150
Hassan HammoudSaint Georges Hospital , Beirut, Lebanon.
Lisa F P NgA*STAR Infectious Disease Labs, Agency for Science, Technology and Research , Singapore, Singapore.ORCID 0000-0003-4071-5222
Rabih HalwaniResearch Institute for Medical and Health Sciences, University of Sharjah , Sharjah, UAE.ORCID 0000-0002-6516-7771
Narjes Saheb Sharif-AskariResearch Institute for Medical and Health Sciences, University of Sharjah , Sharjah, UAE.ORCID 0000-0003-0482-6777
Yu Lung LauDepartment of Pediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.ORCID 0000-0002-4780-0289
Anthony R TamDivision of Infectious Diseases, Department of Medicine, School of Clinical Medicine, University of Hong Kong, Hong Kong, China.ORCID 0000-0001-8821-780X
Neha SinghASTER CMI Hospitals , Bengaluru, India.ORCID 0000-0001-8467-2290
Sagar BhattadASTER CMI Hospitals , Bengaluru, India.ORCID 0000-0002-5048-9727
Yackov BerkunDepartment of Pediatrics, Hadassah-Hebrew University Medical Center, Mount Scopus and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.ORCID 0000-0001-9823-4750
Wasun ChantratitaCenter for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Raúl Aguilar-LópezDepartment of Surgery, Maternal and Child Hospital, Social Security Institute of the State of Mexico and Municipalities (ISSEMYM), Toluca, Mexico.ORCID 0009-0001-0841-3067
Mohammad ShahrooeiClinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium.ORCID 0000-0002-4974-3441
COVID-19 HGE Consortium
SEAe Consortium
Laurent AbelSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0001-7016-6493
Paul BastardSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-5926-8437
Emmanuelle JouanguySt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-7358-9157
Vivien BéziatSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-4020-824X
Peng ZhangSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-6129-567X
Charles M Rice *Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.ORCID 0000-0003-3087-8079
Aurélie Cobat *St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0001-7209-6257
Shen-Ying Zhang *St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-9449-3672
Paul J Hertzog *Centre for Innate Immunity and Infectious Diseases, Department of Molecular and Translational Science, Hudson Institute of Medical Research and Monash University, Clayton, Australia.ORCID 0000-0002-1373-8472
Jean-Laurent Casanova *St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-7782-4169
Qian Zhang *St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-9040-3289
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MInborn errors of immunity in patients with life-threatening COVID-19R01AI163029 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, ZHANG, QIAN · 2021 to 2025
$3.7MAmerican Lung Association COVID-1026207Battersea and Bowery Advisory GroupConselho Nacional de Desenvolvimento Científico e Tecnológico 12960/2021-2Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - BrasilEuropean Union's Horizon 2020 research and innovation program 824110Fisher Center for Alzheimer's Research FoundationFondation Bettencourt-SchuellerFondation du SouffleFrench Foundation for Medical Research EA20170638020French Ministry of Higher Education, Research, and InnovationFrench National Research Agency ANR-10-IAHU-01General Atlantic FoundationGrandir - Fonds de solidarité pour l'enfanceHORIZON-HLTH-2021-DISEASE-04 program 101057100Howard Hughes Medical InstituteImagine InstituteInstitut de Recherche pour le DéveloppementInstitut National de la Santé et de la Recherche MédicaleInstitut PasteurJPB FoundationKing Abdulaziz City for Science and TechnologyKing Abdullah University of Science and TechnologyKing Saud UniversityMeyer FoundationNCATS NIH HHS UL1 TR001866NCRR NIH HHSNIAID NIH HHS R01 AI163029NIH HHS UL1TR001866Paris Cité UniversityRockefeller UniversitySCOR Corporate Foundation for ScienceSquare FoundationStavros Niarchos FoundationSt. Giles FoundationWellcome Trust
Abstract
Autosomal recessive deficiency of the IFNAR1 or IFNAR2 chain of the human type I IFN receptor abolishes cellular responses to IFN-α, -β, and -ω, underlies severe viral diseases, and is globally very rare, except for IFNAR1 and IFNAR2 deficiency in Western Polynesia and the Arctic, respectively. We report 11 human IFNAR1 alleles, the products of which impair but do not abolish responses to IFN-α and -ω without affecting responses to IFN-β. Ten of these alleles are rare in all populations studied, but the remaining allele (P335del) is common in Southern China (minor allele frequency ≈2%). Cells heterozygous for these variants display a dominant phenotype in vitro with impaired responses to IFN-α and -ω, but not -β, and viral susceptibility. Negative dominance, rather than haploinsufficiency, accounts for this dominance. Patients heterozygous for these variants are prone to viral diseases, attesting to both the dominance of these variants clinically and the importance of IFN-α and -ω for protective immunity against some viruses.
Indexed as
Interferon-alphaInterferon-betaReceptor, Interferon alpha-betaAllelesChinaGene FrequencyHeterozygoteHumansInterferon Type IVirus DiseasesIFNAR1 protein, humanInterferon-alphaInterferon-betaInterferon Type IReceptor, Interferon alpha-beta
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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 Socratic graph.