Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis

Enterovirus (EV) infection rarely results in life-threatening infection of the central nervous system. We report two unrelated children with EV30 and EV71 rhombencephalitis. One patient carries compound heterozygous TLR3 variants (loss-of-function F322fs2* and hypomorphic D280N), and the other is ho...

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Detalles Bibliográficos
Autores principales: Chen, Jie, Jing, Huie, Martin-Nalda, Andrea, Bastard, Paul, Rivière, Jacques G., Liu, Zhiyong, Colobran, Roger, Lee, Danyel, Tung, Wesley, Manry, Jeremy, Hasek, Mary, Boucherit, Soraya, Lorenzo, Lazaro, Rozenberg, Flore, Aubart, Mélodie, Abel, Laurent, Su, Helen C., Soler Palacin, Pere, Casanova, Jean-Laurent, Zhang, Shen-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570298/
https://www.ncbi.nlm.nih.gov/pubmed/34726731
http://dx.doi.org/10.1084/jem.20211349

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570298/
https://www.ncbi.nlm.nih.gov/pubmed/34726731
http://dx.doi.org/10.1084/jem.20211349

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