Human adaptive immunity rescues an inborn error of innate immunity

The molecular basis of the incomplete penetrance of monogenic disorders is unclear. We describe here eight related individuals with autosomal recessive TIRAP deficiency. Life-threatening staphylococcal disease occurred during childhood in the proband, but not in the other seven homozygotes. Response...

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Udgivet i:Cell
Main Authors: Israel, Laura, Wang, Ying, Bulek, Katarzyna, Mina, Erika Della, Zhang, Zhao, Pedergnagna, Chrabieh, Vincent, Maya, Lemmens, Nicole A., Sancho-Shimizu, Vanessa, Descatoire, Marc, Lasseau, Théo, Israelsson, Elisabeth, Lorenzo, Lazaro, Yun, Ling, Belkadi, Aziz, Moran, Andrew, Weisman, Leonard E., Vandenesh, François, Batteux, Frederic, Weller, Sandra, Levin, Michael, Herberg, Jethro, Abhyankar, Avinash, Prando, Carolina, Itan, Yuval, van Wamel, Willem, Picard, Capucine, Abel, Laurent, Chaussabel, Damien, Li, Xiaoxia, Beutler, Bruce, Arkwright, Peter D., Casanova, Jean-Laurent, Puel, Anne
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5328639/
https://ncbi.nlm.nih.gov/pubmed/28235196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2017.01.039
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