DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

por Volk, Timo, Pannicke, Ulrich, Reisli, Ismail, Bulashevska, Alla, Ritter, Julia, Björkman, Andrea, Schäffer, Alejandro A., Fliegauf, Manfred, Sayar, Esra H., Salzer, Ulrich, Fisch, Paul, Pfeifer, Dietmar, Di Virgilio, Michela, Cao, Hongzhi, Yang, Fang, Zimmermann, Karin, Keles, Sevgi, Caliskaner, Zafer, Güner, S¸ükrü, Schindler, Detlev, Hammarström, Lennart, Rizzi, Marta, Hummel, Michael, Pan-Hammarström, Qiang, Schwarz, Klaus, Grimbacher, Bodo
Publicado en Hum Mol Genet (2015)

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

por 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
Publicado en Sci Immunol (2018)