A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Journal of Experimental Medicine Année : 2022

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
Maguelonne Roux
Nicola Hawley
Daniel Weeks
Stephen Mcgarvey
Karla Sandoval
Carmina Barberena-Jonas
Consuelo Quinto-Cortés
Erika Hagelberg
Alexander Mentzer
Kathryn Robson
Boubacar Coulibaly
Yoann Seeleuthner
Benedetta Bigio
Zhi Li
Gilles Uzé
Sandra Pellegrini
Lazaro Lorenzo
Zineb Sbihi
Sylvain Latour
Marianne Besnard
Tiphaine Adam de Beaumais
Evelyne Jacqz Aigrain
Vivien Béziat
Ranjan Deka
Litara Esera Tulifau
Satupa‘itea Viali
Take Naseri
Peter Mcnaughton
Vanessa Sarkozy
Jane Peake
Annaliesse Blincoe
Sarah Primhak
Simon Stables
Kate Gibson
See-Tarn Woon
Kylie Marie Drake
Adrian V.S. Hill
Cheng-Yee Chan
Richard King
Rohan Ameratunga
Iotefa Teiti
Maite Aubry
Van-Mai Cao-Lormeau
Stuart Tangye
Shen-Ying Zhang
Emmanuelle Jouanguy
Paul Gray
Laurent Abel
Andrés Moreno-Estrada
Ryan Minster
Lluis Quintana-Murci
Andrew Wood
Jean-Laurent Casanova

Résumé

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.
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Dates et versions

hal-03805287 , version 1 (07-10-2022)

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Paul Bastard, Kuang-Chih Hsiao, Qian Zhang, Jeremy Choin, Emma Best, et al.. A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes. Journal of Experimental Medicine, 2022, 219 (6), ⟨10.1084/jem.20220028⟩. ⟨hal-03805287⟩
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