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

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dc.contributor.author Bastard, Paul
dc.contributor.author Hsiao, Kuang-Chih
dc.contributor.author Zhang, Qian
dc.contributor.author Choin, Jeremy
dc.contributor.author Best, Emma
dc.contributor.author Chen, Jie
dc.contributor.author Gervais, Adrian
dc.contributor.author Bizien, Lucy
dc.contributor.author Materna, Marie
dc.contributor.author Harmant, Christine
dc.contributor.author Roux, Maguelonne
dc.contributor.author Hawley, Nicola L
dc.contributor.author Weeks, Daniel E
dc.contributor.author McGarvey, Stephen T
dc.contributor.author Sandoval, Karla
dc.contributor.author Barberena-Jonas, Carmina
dc.contributor.author Quinto-Cortés, Consuelo D
dc.contributor.author Hagelberg, Erika
dc.contributor.author Mentzer, Alexander J
dc.contributor.author Robson, Kathryn
dc.contributor.author Coulibaly, Boubacar
dc.contributor.author Seeleuthner, Yoann
dc.contributor.author Bigio, Benedetta
dc.contributor.author Li, Zhi
dc.contributor.author Uzé, Gilles
dc.contributor.author Pellegrini, Sandra
dc.contributor.author Lorenzo, Lazaro
dc.contributor.author Sbihi, Zineb
dc.contributor.author Latour, Sylvain
dc.contributor.author Besnard, Marianne
dc.contributor.author Adam de Beaumais, Tiphaine
dc.contributor.author Jacqz Aigrain, Evelyne
dc.contributor.author Béziat, Vivien
dc.contributor.author Deka, Ranjan
dc.contributor.author Esera Tulifau, Litara
dc.contributor.author Viali, Satupa'itea
dc.contributor.author Reupena, Muagututi'a Sefuiva
dc.contributor.author Naseri, Take
dc.contributor.author McNaughton, Peter
dc.contributor.author Sarkozy, Vanessa
dc.contributor.author Peake, Jane
dc.contributor.author Blincoe, Annaliesse
dc.contributor.author Primhak, Sarah
dc.contributor.author Stables, Simon
dc.contributor.author Gibson, Kate
dc.contributor.author Woon, See-Tarn
dc.contributor.author Drake, Kylie Marie
dc.contributor.author Hill, Adrian VS
dc.contributor.author Chan, Cheng-Yee
dc.contributor.author King, Richard
dc.contributor.author Ameratunga, Rohan
dc.contributor.author Teiti, Iotefa
dc.contributor.author Aubry, Maite
dc.contributor.author Cao-Lormeau, Van-Mai
dc.contributor.author Tangye, Stuart G
dc.contributor.author Zhang, Shen-Ying
dc.contributor.author Jouanguy, Emmanuelle
dc.contributor.author Gray, Paul
dc.contributor.author Abel, Laurent
dc.contributor.author Moreno-Estrada, Andrés
dc.contributor.author Minster, Ryan L
dc.contributor.author Quintana-Murci, Lluis
dc.contributor.author Wood, Andrew C
dc.contributor.author Casanova, Jean-Laurent
dc.coverage.spatial United States
dc.date.accessioned 2022-06-20T00:06:35Z
dc.date.available 2022-06-20T00:06:35Z
dc.date.issued 2022-06
dc.identifier.citation (2022). Journal of Experimental Medicine, 219(6), e20220028-.
dc.identifier.issn 0022-1007
dc.identifier.uri https://hdl.handle.net/2292/60003
dc.description.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.
dc.format.medium Print-Electronic
dc.language eng
dc.publisher Rockefeller University Press
dc.relation.ispartofseries The Journal of experimental medicine
dc.rights Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher.
dc.rights.uri https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm
dc.rights.uri https://creativecommons.org/licenses/by/4.0/
dc.subject Infectious Diseases
dc.subject Emerging Infectious Diseases
dc.subject Genetics
dc.subject Rare Diseases
dc.subject Clinical Research
dc.subject 2.1 Biological and endogenous factors
dc.subject Infection
dc.subject 11 Medical and Health Sciences
dc.title A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
dc.type Journal Article
dc.identifier.doi 10.1084/jem.20220028
pubs.issue 6
pubs.begin-page e20220028
pubs.volume 219
dc.date.updated 2022-05-05T01:03:24Z
dc.rights.holder Copyright: The author en
dc.identifier.pmid 35442418 (pubmed)
pubs.author-url https://www.ncbi.nlm.nih.gov/pubmed/35442418
pubs.publication-status Accepted
dc.rights.accessrights http://purl.org/eprint/accessRights/OpenAccess en
pubs.subtype Journal Article
pubs.elements-id 896731
pubs.org-id Medical and Health Sciences
pubs.org-id Medical Sciences
pubs.org-id Molecular Medicine
pubs.org-id School of Medicine
pubs.org-id Paediatrics Child & Youth Hlth
dc.identifier.eissn 1540-9538
dc.identifier.pii 213170
pubs.record-created-at-source-date 2022-05-05
pubs.online-publication-date 2022-04-20


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