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 |
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dc.contributor.author |
Barberena-Jonas, Carmina |
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dc.contributor.author |
Quinto-Cortés, Consuelo D |
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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 |
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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 |
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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 |
|