The Journal of experimental medicine · 2022

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

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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

Аннотация

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.

Предметные рубрики MeSH

Alleles Child Homozygote Humans Polynesia Receptor, Interferon alpha-beta Virus Diseases

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

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Аннотация

Предметные рубрики MeSH