Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant

Inherited IL-12Rβ1 and TYK2 deficiencies impair both IL-12- and IL-23-dependent IFN-γ immunity and are rare monogenic causes of tuberculosis, each found in about 1/100,000 individuals. We show that homozygosity for the common TYK2 P1104A allele, which is found in about 1/600 Europeans and 1/2,500 ot...

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Publicado en:Sci Immunol
Main Authors: Boisson-Dupuis, Stéphanie, Ramirez-Alejo, Noe, Li, Zhi, Patin, Etienne, Rao, Geetha, Kerner, Gaspard, Lim, Che Kang, Krementsov, Dimitry N., Hernandez, Nicholas, Ma, Cindy S., Zhang, Qian, Markle, Janet, Martinez-Barricarte, Ruben, Payne, Kathryn, Fisch, Robert, Deswarte, Caroline, Halpern, Joshua, Bouaziz, Matthieu, Mulwa, Jeanette, Sivanesan, Durga, Lazarov, Tomi, Naves, Rodrigo, Garcia, Patricia, Itan, Yuval, Boisson, Bertrand, Checchi, Alix, Jabot-Hanin, Fabienne, Cobat, Aurélie, Guennoun, Andrea, Jackson, Carolyn C., Pekcan, Sevgi, Caliskaner, Zafer, Inostroza, Jaime, Tavares Costa-Carvalho, Beatriz, Albuquerque, Jose Antonio Tavares, Garcia-Ortiz, Humberto, Orozco, Lorena, Ozcelik, Tayfun, Abid, Ahmed, Rhorfi, Ismail Abderahmani, Souhi, Hicham, Amrani, Hicham Naji, Zegmout, Adil, Geissmann, Frédéric, Michnick, Stephen W., Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Puel, Anne, Ciancanelli, Michael J., Marr, Nico, Abolhassani, Hassan, Balcells, Maria Elvira, Condino-Neto, Antonio, Strickler, Alexis, Abarca, Katia, Teuscher, Cory, Ochs, Hans D., Reisli, Ismail, Sayar, Esra H., El-Baghdadi, Jamila, Bustamante, Jacinta, Hammarström, Lennart, Tangye, Stuart G., Pellegrini, Sandra, Quintana-Murci, Lluis, Abel, Laurent, Casanova, Jean-Laurent
Formato: Artigo
Idioma:Inglês
Publicado: 2018
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6341984/
https://ncbi.nlm.nih.gov/pubmed/30578352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/sciimmunol.aau8714
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