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© Research
Publication : The Journal of experimental medicine

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

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in The Journal of experimental medicine - 06 Jun 2022

Bastard P, Hsiao KC, Zhang Q, Choin J, Best E, Chen J, Gervais A, Bizien L, Materna M, Harmant C, Roux M, Hawley NL, Weeks DE, McGarvey ST, Sandoval K, Barberena-Jonas C, Quinto-Cortés CD, Hagelberg E, Mentzer AJ, Robson K, Coulibaly B, Seeleuthner Y, Bigio B, Li Z, Uzé G, Pellegrini S, Lorenzo L, Sbihi Z, Latour S, Besnard M, Adam de Beaumais T, Jacqz Aigrain E, Béziat V, Deka R, Esera Tulifau L, Viali S, Reupena MS, Naseri T, McNaughton P, Sarkozy V, Peake J, Blincoe A, Primhak S, Stables S, Gibson K, Woon ST, Drake KM, Hill AVS, Chan CY, King R, Ameratunga R, Teiti I, Aubry M, Cao-Lormeau VM, Tangye SG, Zhang SY, Jouanguy E, Gray P, Abel L, Moreno-Estrada A, Minster RL, Quintana-Murci L, Wood AC, Casanova JL,

Link to Pubmed [PMID] – 35442418

Link to DOI – e2022002810.1084/jem.20220028

J Exp Med 2022 Jun; 219(6):

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.

https://pubmed.ncbi.nlm.nih.gov/35442418