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A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
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.
Afiliação
  • Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Hsiao KC; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Zhang Q; Paris Cité University, Imagine Institute, Paris, France.
  • Choin J; Department of Pediatrics, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, Paris, France.
  • Best E; Starship Child Health, Auckland, New Zealand.
  • Chen J; Department of Paediatrics: Child and Youth Health, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
  • Gervais A; Murdoch Children's Research Institute, Melbourne, Australia.
  • Bizien L; Clinical Immunogenomics Research Consortium Australasia, Sydney, Australia.
  • Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Harmant C; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Roux M; Paris Cité University, Imagine Institute, Paris, France.
  • Hawley NL; Institut Pasteur, Université de Paris, CNRS UMR2000, Human Evolutionary Genetics Unit, Paris, France.
  • Weeks DE; Chair of Human Genomics and Evolution, Collège de France, Paris, France.
  • McGarvey ST; Paris Cité University, Paris, France.
  • Sandoval K; Starship Child Health, Auckland, New Zealand.
  • Barberena-Jonas C; Department of Paediatrics: Child and Youth Health, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
  • Quinto-Cortés CD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Hagelberg E; Department of Infectious Diseases, Shanghai Sixth Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Mentzer AJ; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Robson K; Paris Cité University, Imagine Institute, Paris, France.
  • Coulibaly B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Seeleuthner Y; Paris Cité University, Imagine Institute, Paris, France.
  • Bigio B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Li Z; Paris Cité University, Imagine Institute, Paris, France.
  • Uzé G; Institut Pasteur, Université de Paris, CNRS UMR2000, Human Evolutionary Genetics Unit, Paris, France.
  • Pellegrini S; Institut Pasteur, Université de Paris, CNRS UMR2000, Human Evolutionary Genetics Unit, Paris, France.
  • Lorenzo L; Institut Pasteur, Université de Paris, Bioinformatics and Biostatistics Hub, Paris, France.
  • Sbihi Z; Department of Chronic Disease Epidemiology, Yale University School of Public Health, New Haven, CT.
  • Latour S; International Health Institute, Department of Epidemiology, School of Public Health, Brown University, Providence, RI.
  • Besnard M; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA.
  • Adam de Beaumais T; Department of Biostatistics, School of Public Health, University of Pittsburgh, Pittsburgh, PA.
  • Jacqz Aigrain E; International Health Institute, Department of Epidemiology, School of Public Health, Brown University, Providence, RI.
  • Béziat V; Department of Anthropology, Brown University, Providence, RI.
  • Deka R; National Laboratory of Genomics for Biodiversity (LANGEBIO) - UGA, CINVESTAV, Irapuato, Guanajuato, Mexico.
  • Esera Tulifau L; National Laboratory of Genomics for Biodiversity (LANGEBIO) - UGA, CINVESTAV, Irapuato, Guanajuato, Mexico.
  • Viali S; National Laboratory of Genomics for Biodiversity (LANGEBIO) - UGA, CINVESTAV, Irapuato, Guanajuato, Mexico.
  • Reupena MS; Department of Biology, University of Oslo, Oslo, Norway.
  • Naseri T; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • McNaughton P; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
  • Sarkozy V; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Peake J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Blincoe A; Paris Cité University, Imagine Institute, Paris, France.
  • Primhak S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Stables S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Gibson K; Institut Pasteur, Université de Paris, CNRS UMR2000, Human Evolutionary Genetics Unit, Paris, France.
  • Woon ST; Unit of Cytokine Signaling, Pasteur Institute, INSERM U1224, Paris, France.
  • Drake KM; Institute for Regenerative Medicine and Biotherapy, Université Montpellier, INSERM, CNRS, Montpellier, France.
  • Hill AVS; Unit of Cytokine Signaling, Pasteur Institute, INSERM U1224, Paris, France.
  • Chan CY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • King R; Paris Cité University, Imagine Institute, Paris, France.
J Exp Med ; 219(6)2022 06 06.
Article em En | MEDLINE | ID: mdl-35442418
ABSTRACT
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-ß). 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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Viroses / Receptor de Interferon alfa e beta Limite: Child / Humans Idioma: En Revista: J Exp Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Viroses / Receptor de Interferon alfa e beta Limite: Child / Humans Idioma: En Revista: J Exp Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França