Article
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
The Journal of experimental medicine - 6 Jun 2022
Bastard Paul, Hsiao Kuang-Chih, Zhang Qian, Choin Jeremy, Best Emma, Chen Jie, Gervais Adrian, Bizien Lucy, Materna Marie, Harmant Christine, Roux Maguelonne, Hawley Nicola L, Weeks Daniel E, McGarvey Stephen T, Sandoval Karla, Barberena-Jonas Carmina, Quinto-Cortés Consuelo D, Hagelberg Erika, Mentzer Alexander J, Robson Kathryn, Coulibaly Boubacar, Seeleuthner Yoann, Bigio Benedetta, Li Zhi, Uzé Gilles, Pellegrini Sandra, Lorenzo Lazaro, Sbihi Zineb, Latour Sylvain, Besnard Marianne, Adam de Beaumais Tiphaine, Jacqz Aigrain Evelyne, Béziat Vivien, Deka Ranjan, Esera Tulifau Litara, Viali Satupa'itea, Reupena Muagututi'a Sefuiva, Naseri Take, McNaughton Peter, Sarkozy Vanessa, Peake Jane, Blincoe Annaliesse, Primhak Sarah, Stables Simon, Gibson Kate, Woon See-Tarn, Drake Kylie Marie, Hill Adrian V S, Chan Cheng-Yee, King Richard, Ameratunga Rohan, Teiti Iotefa, Aubry Maite, Cao-Lormeau Van-Mai, Tangye Stuart G, Zhang Shen-Ying, Jouanguy Emmanuelle, Gray Paul, Abel Laurent, Moreno-Estrada Andrés, Minster Ryan L, Quintana-Murci Lluis, Wood Andrew C, Casanova Jean-Laurent
Abstract excerpt
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...
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