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

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 patient...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2022
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9026234/
https://www.ncbi.nlm.nih.gov/pubmed/35442418
http://dx.doi.org/10.1084/jem.20220028

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