Skip to Main content Skip to Navigation
Journal articles

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

Jean-Laurent Casanova 1, 2, 3, 4, 5 Andrew Wood 6 Lluis Quintana-Murci 7, 8 Ryan Minster 9 Andrés Moreno-Estrada 10 Laurent Abel 3, 1, 2, 4 Paul Gray 11, 12 Emmanuelle Jouanguy 1, 2, 3, 4 Shen-ying Zhang 1, 2, 3, 4 Stuart Tangye 13, 14 Van-Mai Cao-Lormeau 15 Maite Aubry 15 Iotefa Teiti 15 Rohan Ameratunga 16, 6 Richard King 17 Cheng-yee Chan 17 Adrian Hill 18 Kylie Drake 17 See-Tarn Woon 16, 6 Kate Gibson Simon Stables 16 Sarah Primhak 6 Annaliesse Blincoe Jane Peake 19 Vanessa Sarkozy 11, 12 Peter Mcnaughton 19 Take Naseri 20, 21 Muagututi‘a Reupena Satupa‘itea Viali Litara Esera Tulifau 22 Ranjan Deka 23 Vivien Béziat 1, 4 Evelyne Jacqz Aigrain 24, 25 Tiphaine Adam de Beaumais 26, 24 Marianne Besnard 27 Sylvain Latour 1 Zineb Sbihi 1 Lazaro Lorenzo 1, 4 Sandra Pellegrini 28 Gilles Uzé 29 Zhi Li 28, 7 Benedetta Bigio 2 yoann Seeleuthner 1, 4 Boubacar Coulibaly 1, 4 Kathryn Robson 18 Alexander Mentzer 18 Erika Hagelberg 30 Consuelo Quinto-Cortés 31 Carmina Barberena-Jonas 31 Karla Sandoval 31 Stephen Mcgarvey 20 Daniel Weeks 9 Nicola Hawley 32, 20 Maguelonne Roux 7, 33 Christine Harmant 7 Marie Materna 1, 34, 4 Lucy Bizien 1, 34, 4 Adrian Gervais 1, 34, 4 Jie Chen 2, 35 Emma Best 6 Jeremy Choin 7 Qian Zhang 34, 2, 1, 4 Kuang-Chih Hsiao 6, 36 Paul Bastard 34, 2, 1, 4 
3 Equipe Inserm U1163 - Human genetics of infectious diseases: Complex predisposition
Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
34 Equipe Inserm U1163 - Human genetics of infectious diseases : Mendelian predisposition
Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
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.
Complete list of metadata

https://hal-pasteur.archives-ouvertes.fr/pasteur-03681917
Contributor : Christine Harmant Connect in order to contact the contributor
Submitted on : Monday, May 30, 2022 - 3:54:37 PM
Last modification on : Friday, June 3, 2022 - 4:06:44 PM

File

jem_20220028.pdf
Publication funded by an institution

Licence


Distributed under a Creative Commons Attribution 4.0 International License

Identifiers

Collections

Citation

Jean-Laurent Casanova, Andrew Wood, Lluis Quintana-Murci, Ryan Minster, Andrés Moreno-Estrada, et al.. A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes. Journal of Experimental Medicine, Rockefeller University Press, 2022, 219 (6), pp.e20220028. ⟨10.1084/jem.20220028⟩. ⟨pasteur-03681917⟩

Share

Metrics

Record views

0

Files downloads

0