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

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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Main Authors: Abel, L. (Author), Adam de Beaumais, T. (Author), Ameratunga, R. (Author), Aubry, M. (Author), Barberena-Jonas, C. (Author), Bastard, P. (Author), Besnard, M. (Author), Best, E. (Author), Béziat, V. (Author), Bigio, B. (Author), Bizien, L. (Author), Blincoe, A. (Author), Cao-Lormeau, V.-M (Author), Casanova, J.-L (Author), Chan, C.-Y (Author), Chen, J. (Author), Choin, J. (Author), Coulibaly, B. (Author), Deka, R. (Author), Drake, K.M (Author), Esera Tulifau, L. (Author), Gervais, A. (Author), Gibson, K. (Author), Gray, P. (Author), Hagelberg, E. (Author), Harmant, C. (Author), Hawley, N.L (Author), Hill, A.V.S (Author), Hsiao, K.-C (Author), Jacqz Aigrain, E. (Author), Jouanguy, E. (Author), King, R. (Author), Latour, S. (Author), Li, Z. (Author), Lorenzo, L. (Author), Materna, M. (Author), McGarvey, S.T (Author), McNaughton, P. (Author), Mentzer, A.J (Author), Minster, R.L (Author), Moreno-Estrada, A. (Author), Naseri, T. (Author), Peake, J. (Author), Pellegrini, S. (Author), Primhak, S. (Author), Quintana-Murci, L. (Author), Quinto-Cortés, C.D (Author), Reupena, M.S (Author), Robson, K. (Author), Roux, M. (Author), Sandoval, K. (Author), Sarkozy, V. (Author), Sbihi, Z. (Author), Seeleuthner, Y. (Author), Stables, S. (Author), Tangye, S.G (Author), Teiti, I. (Author), Uzé, G. (Author), Viali, S. (Author), Weeks, D.E (Author), Wood, A.C (Author), Woon, S.-T (Author), Zhang, Q. (Author), Zhang, S.-Y (Author)
Format: Article
Language:English
Published: NLM (Medline) 2022
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