Evidence map›Paper›PMID 35442418›Full record

ArticleThe Journal of experimental medicine2022

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.

Paul Bastard, Kuang-Chih Hsiao, Qian Zhang, Jeremy Choin, Emma Best, Jie Chen, Adrian Gervais, Lucy Bizien, Marie Materna, Christine Harmant and 54 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of experimental medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed
5.2field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

45 citing papers in PubMed, 65 citations in OpenAlex.

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  12. The potential impacts of human genetics on virus emergence.Proceedings of the National Academy of Sciences of the United States of America · 2025
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  14. Human immunity.Journal of human immunity · 2025
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  15. ACOD1-mediated lysosomal membrane permeabilization contributes toProceedings of the National Academy of Sciences of the United States of America · 2025
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  16. Article
  17. Human genetics of responses to vaccines.Clinical and experimental immunology · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

64 authors at 20 institutions in 10 countries.

Paul Bastard *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-5926-8437
Kuang-Chih Hsiao *Starship Child Health, Auckland, New Zealand.ORCID 0000-0001-7412-9761
Qian Zhang *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-9040-3289
Jeremy Choin *Institut Pasteur, Université de Paris, CNRS UMR2000, Human Evolutionary Genetics Unit, Paris, France.ORCID 0000-0002-2189-8767
Emma Best *Starship Child Health, Auckland, New Zealand.ORCID 0000-0002-2667-5458
Jie Chen *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0002-5354-4170
Adrian Gervais *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-1083-5787
Lucy Bizien *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-9163-9122
Marie Materna *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-1180-6651
Christine HarmantInstitut Pasteur, Université de Paris, CNRS UMR2000, Human Evolutionary Genetics Unit, Paris, France.ORCID 0000-0003-2949-772X
Maguelonne RouxInstitut Pasteur, Université de Paris, CNRS UMR2000, Human Evolutionary Genetics Unit, Paris, France.ORCID 0000-0002-3775-0003
Nicola L HawleyDepartment of Chronic Disease Epidemiology, Yale University School of Public Health, New Haven, CT.ORCID 0000-0002-2601-3454
Daniel E WeeksDepartment of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA.ORCID 0000-0001-9410-7228
Stephen T McGarveyInternational Health Institute, Department of Epidemiology, School of Public Health, Brown University, Providence, RI.ORCID 0000-0003-1233-6970
Karla SandovalNational Laboratory of Genomics for Biodiversity (LANGEBIO) - UGA, CINVESTAV, Irapuato, Guanajuato, Mexico.ORCID 0000-0002-6175-2463
Carmina Barberena-JonasNational Laboratory of Genomics for Biodiversity (LANGEBIO) - UGA, CINVESTAV, Irapuato, Guanajuato, Mexico.ORCID 0000-0001-7413-638X
Consuelo D Quinto-CortésNational Laboratory of Genomics for Biodiversity (LANGEBIO) - UGA, CINVESTAV, Irapuato, Guanajuato, Mexico.ORCID 0000-0002-0338-3321
Erika HagelbergDepartment of Biology, University of Oslo, Oslo, Norway.ORCID 0000-0001-5245-6059
Alexander J MentzerWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.ORCID 0000-0002-4502-2209
Kathryn RobsonMRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.ORCID 0000-0003-4298-1874
Boubacar CoulibalyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-4777-6741
Yoann SeeleuthnerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-1878-8567
Benedetta BigioSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0001-7291-5638
Zhi LiInstitut Pasteur, Université de Paris, CNRS UMR2000, Human Evolutionary Genetics Unit, Paris, France.ORCID 0000-0003-4422-4914
Gilles UzéInstitute for Regenerative Medicine and Biotherapy, Université Montpellier, INSERM, CNRS, Montpellier, France.ORCID 0000-0002-4150-5772
Sandra PellegriniUnit of Cytokine Signaling, Pasteur Institute, INSERM U1224, Paris, France.ORCID 0000-0001-5837-7589
Lazaro LorenzoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-6648-8684
Zineb SbihiLaboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France.ORCID 0000-0002-6695-7695
Sylvain LatourParis Cité University, Imagine Institute, Paris, France.ORCID 0000-0001-8238-4391
Marianne BesnardDepartment of Neonatology, Centre Hospitalier de Polynésie Française, Papeete, French Polynesia.ORCID 0000-0002-3065-5361
Tiphaine Adam de BeaumaisPrecision Cancer Medicine Team, Institut Gustave Roussy, Villejuif, France.ORCID 0000-0002-7119-8515
Evelyne Jacqz AigrainParis Cité University, Paris, France.ORCID 0000-0002-4285-7067
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-4020-824X
Ranjan DekaDepartment of Environmental and Public Health Sciences, College of Medicine, University of Cincinnati, Cincinnati, OH.ORCID 0000-0003-2680-1159
Litara Esera TulifauTupua Tamasese Meaole Hospital, Apia, Samoa.ORCID 0000-0001-6465-5880
Satupa'itea VialiSchool of Medicine, National University of Samoa, Apia, Samoa.ORCID 0000-0002-4829-8403
Muagututi'a Sefuiva ReupenaLutia i Puava ae Mapu i Fagalele, Apia, Samoa.
Take NaseriInternational Health Institute, Department of Epidemiology, School of Public Health, Brown University, Providence, RI.ORCID 0000-0002-7633-2269
Peter McNaughtonClinical Immunogenomics Research Consortium Australasia, Sydney, Australia.ORCID 0000-0002-4600-8839
Vanessa SarkozyTumbatin Developmental Services, Sydney Children's Hospital, Randwick, New South Wales, Australia.ORCID 0000-0003-2084-7498
Jane PeakeClinical Immunogenomics Research Consortium Australasia, Sydney, Australia.ORCID 0000-0001-9003-5861
Annaliesse BlincoeStarship Child Health, Auckland, New Zealand.ORCID 0000-0002-1150-6133
Sarah PrimhakStarship Child Health, Auckland, New Zealand.ORCID 0000-0002-6464-5217
Simon StablesDepartment of Forensic Pathology, Auckland City Hospital, Auckland, New Zealand.ORCID 0000-0003-4134-1496
Kate GibsonClinical Geneticist, South Island Hub, Genetic Health Service, Christchurch, New Zealand.ORCID 0000-0003-1417-1831
See-Tarn WoonDepartment of Virology and Immunology, LabPLUS, Auckland City Hospital, Auckland, New Zealand.ORCID 0000-0002-3791-9753
Kylie Marie DrakeMolecular Pathology, Canterbury Health Laboratories, Christchurch, New Zealand.ORCID 0000-0003-1405-4694
Adrian V S HillWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.ORCID 0000-0003-0900-9629
Cheng-Yee ChanChemical Pathology and Genetics, Canterbury Health Laboratories, Christchurch, New Zealand.ORCID 0000-0002-6507-6431
Richard KingChemical Pathology and Genetics, Canterbury Health Laboratories, Christchurch, New Zealand.ORCID 0000-0002-2805-9552
Rohan AmeratungaDepartment of Virology and Immunology, LabPLUS, Auckland City Hospital, Auckland, New Zealand.ORCID 0000-0002-3011-8654
Iotefa TeitiLaboratory of Research on Infectious Vector-borne Diseases, Institut Louis Malardé, Papeete, French Polynesia.ORCID 0000-0001-8921-1178
Maite AubryLaboratory of Research on Infectious Vector-borne Diseases, Institut Louis Malardé, Papeete, French Polynesia.ORCID 0000-0002-9913-5794
Van-Mai Cao-LormeauLaboratory of Research on Infectious Vector-borne Diseases, Institut Louis Malardé, Papeete, French Polynesia.ORCID 0000-0001-5606-7480
Stuart G TangyeClinical Immunogenomics Research Consortium Australasia, Sydney, Australia.ORCID 0000-0002-5360-5180
Shen-Ying Zhang *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-9449-3672
Emmanuelle Jouanguy *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7358-9157
Paul Gray *Clinical Immunogenomics Research Consortium Australasia, Sydney, Australia.ORCID 0000-0003-2057-3968
Laurent Abel *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-7016-6493
Andrés Moreno-Estrada *National Laboratory of Genomics for Biodiversity (LANGEBIO) - UGA, CINVESTAV, Irapuato, Guanajuato, Mexico.ORCID 0000-0001-8329-8292
Ryan L Minster *Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA.ORCID 0000-0001-7382-6717
Lluis Quintana-Murci *Institut Pasteur, Université de Paris, CNRS UMR2000, Human Evolutionary Genetics Unit, Paris, France.ORCID 0000-0003-2429-6320
Andrew C Wood *Starship Child Health, Auckland, New Zealand.ORCID 0000-0003-4850-6345
Jean-Laurent Casanova *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7782-4169
Inserm · FRCentre National de la Recherche Scientifique · FRUniversity of Auckland · NZCentro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional · MXBrown University · USCanterbury Health Laboratories · NZInstitut Louis Malardé · PFNational University of Samoa · WSCentre for Human Genetics · GBThe University of Queensland · AUUniversity of Pittsburgh · USUNSW Sydney · AUAuckland City Hospital · NZGarvan Institute of Medical Research · AUHoward Hughes Medical Institute · USInstitut Gustave Roussy · FRRockefeller University · USShanghai Sixth People's Hospital · CNStarship Children's Health · NZUniversité Paris Cité · FR

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
TRANSFORMING TRANSLATIONAL SCIENCE AND EDUCATION TO BENEFIT HUMAN HEALTHUL1RR024143 · NCRR · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2006 to 2011
$49.1M
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Yale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
Monogenic basis of resistance to SARS-CoV2 and predisposition to severe COVID-19R01AI088364 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$8.7M
Integrated cellular, mouse and human research on a novel missense variant influencing adiposity in SamoansR01HL093093 · NHLBI · BROWN UNIVERSITY · PI MCGARVEY, STEPHEN T. · 2009 to 2019
$8.2M
Next Generation Association Studies of Adiposity in Samoans Enhanced by a Samoan-Specific Whole Genome Sequence Reference PanelR01HL133040 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Ryan Lee Minster · 2017 to 2026
$7.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
Inborn errors of immunity in patients with life-threatening COVID-19R01AI163029 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, ZHANG, QIAN · 2021 to 2025
$3.7M
Howard Hughes Medical InstituteMedical Research Council MR/N028937/1NCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR001866NCRR NIH HHS UL1 RR024143NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006504NHGRI NIH HHS UM1HG006504NHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS HHSN268201500016CNHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL093093NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL133040NHLBI NIH HHS U01 HL120393NIAID NIH HHS R01 AI088364NIAID NIH HHS R01 AI163029NIH HHS R01AI088364NIH HHS S10 OD018521
6 · The paper itself

Abstract

Globally, autosomal recessive IFNAR1 deficiency is a rare inborn error of immunity underlying susceptibility to live attenuated vaccine and wild-type viruses. We report seven children from five unrelated kindreds of western Polynesian ancestry who suffered from severe viral diseases. All the patients are homozygous for the same nonsense IFNAR1 variant (p.Glu386*). This allele encodes a truncated protein that is absent from the cell surface and is loss-of-function. The fibroblasts of the patients do not respond to type I IFNs (IFN-α2, IFN-ω, or IFN-β). Remarkably, this IFNAR1 variant has a minor allele frequency >1% in Samoa and is also observed in the Cook, Society, Marquesas, and Austral islands, as well as Fiji, whereas it is extremely rare or absent in the other populations tested, including those of the Pacific region. Inherited IFNAR1 deficiency should be considered in individuals of Polynesian ancestry with severe viral illnesses.

Indexed as

Receptor, Interferon alpha-betaVirus DiseasesAllelesChildHomozygoteHumansPolynesiaIFNAR1 protein, humanReceptor, Interferon alpha-beta

Identifiers

PMID35442418
PMCPMC9026234
OpenAlexW4224256083

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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.