Now showing items 1-3 of 3

    • A global effort to define the human genetics of protective immunity to SARS-CoV-2 infection 

      Casanova, J.-L.; Su, H. C.; Abel, L.; Aiuti, A.; Almuhsen, S.; Arias, A. A.; Bastard, P.; Biggs, C.; Bogunovic, D.; Boisson, B.; Boisson-Dupuis, S.; Bolze, A.; Bondarenko, A.; Bousfiha, A.; Brodin, P.; Bustamante, J.; Butte, M.; Casari, G.; Ciancanelli, M.; Cobat, A.; Condino-Neto, A.; Cooper, M.; Dalgard, C.; Espinosa, S.; Feldman, H.; Fellay, J.; Franco, J. L.; Hagin, D.; Itan, Y.; Jouanguy, E.; Lucas, C.; Mansouri, D.; Meyts, I.; Milner, J.; Mogensen, T.; Morio, T.; Ng, L.; Notarangelo, L. D.; Okada, S.; Özçelik, Tayfun; Palacín, P. S.; Planas, A.; Prando, C.; Puel, A.; Pujol, A.; Redin, C.; Renia, L.; Gallego, J. C. R.; Quintana-Murci, L.; Sancho-Shimizu, V.; Sankaran, V.; Seppänen, M. R. J.; Shahrooei, M.; Snow, A.; Spaan, A.; Tangye, S.; Tur, J. P.; Turvey, S.; Vinh, D. C.; von Bernuth, H.; Wang, X.; Zawadzki, P.; Zhang, Q.; Zhang, S. (Elsevier, 2020)
      SARS-CoV-2 infection displays immense inter-individual clinical variability, ranging from silent infection to lethal disease. The role of human genetics in determining clinical response to the virus remains unclear. Studies ...
    • Human CRY1 variants associate with attention deficit/hyperactivity disorder 

      Onat, O. Emre; Kars, M. Ece; Gül, Ş.; Bilguvar, K.; Wu, Y.; Özhan, Ayşe; Aydın, C.; Başak, A. N.; Trusso, M. A.; Goracci, A.; Fallerini, C.; Renieri, A.; Casanova, J-L.; Itan, Y.; Atbaşoğlu, C. E.; Saka, M. C.; Kavaklı, İ. H.; Özçelik, Tayfun (American Society for Clinical Investigation, 2020)
      Attention deficit/hyperactivity disorder (ADHD) is a common and heritable phenotype frequently accompanied by insomnia, anxiety, and depression. Here, using a reverse phenotyping approach, we report heterozygous coding ...
    • Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant 

      Boisson-Dupuis, S.; Ramirez-Alejo, N.; Li, Z.; Patin, E.; Rao, G.; Kerner, G.; Lim, C. K.; Krementsov, D. N.; Hernandez, N.; Ma, C. S.; Zhang, Q.; Markle, J.; Martinez-Barricarte, R.; Payne, K.; Fisch, R.; Deswarte, C.; Halpern, J.; Bouaziz, M.; Mulwa, J.; Sivanesan, D.; Lazarov, T.; Naves, R.; Garcia, P.; Itan, Y.; Boisson, B.; Checchi, A.; Jabot-Hanin, F.; Cobat, A.; Guennoun, A.; Jackson, C. C.; Pekcan, S.; Çalışkaner, Z.; Inostroza, J.; Costa-Carvalho, B. T.; De Albuquerque, J. A. T.; Garcia-Ortiz, H.; Orozco, L.; Özçelik, Tayfun; Abid, A.; Rhorfi, I. A.; Souhi, H.; Amrani, H. N.; Zegmout, A.; Geissmann, F.; Michnick, S. W.; Muller-Fleckenstein, I.; Fleckenstein, B.; Puel, A.; Ciancanelli, M. J.; Marr, N.; Abolhassani, H.; Balcells, M. E.; Condino-Neto, A.; Strickler, A.; Abarca, K.; Teuscher, C.; Ochs, H. D.; Reisli, I.; Sayar, E. H.; El-Baghdadi, J.; Bustamante, J.; Hammarström, L.; Tangye, S. G.; Pellegrini, S.; Quintana-Murci, L.; Abel, L.; Casanova, J. -L. (NLM (Medline), 2018)
      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 less than 1/600,000 individuals. We show that homozygosity for the ...