Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency

por Carapito, Raphael, Carapito, Christine, Morlon, Aurore, Paul, Nicodème, Vaca Jacome, Alvaro Sebastian, Alsaleh, Ghada, Rolli, Véronique, Tahar, Ouria, Aouadi, Ismail, Rompais, Magali, Delalande, François, Pichot, Angélique, Georgel, Philippe, Messer, Laurent, Sibilia, Jean, Cianferani, Sarah, Van Dorsselaer, Alain, Bahram, Seiamak
Publicado 2018

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

por Castro, Carla Noemi, Rosenzwajg, Michelle, Carapito, Raphael, Shahrooei, Mohammad, Konantz, Martina, Khan, Amjad, Miao, Zhichao, Groß, Miriam, Tranchant, Thibaud, Radosavljevic, Mirjana, Paul, Nicodème, Stemmelen, Tristan, Pitoiset, Fabien, Hirschler, Aurélie, Nespola, Benoit, Molitor, Anne, Rolli, Véronique, Pichot, Angélique, Faletti, Laura Eva, Rinaldi, Bruno, Friant, Sylvie, Mednikov, Mark, Karauzum, Hatice, Aman, M. Javad, Carapito, Christine, Lengerke, Claudia, Ziaee, Vahid, Eyaid, Wafaa, Ehl, Stephan, Alroqi, Fayhan, Parvaneh, Nima, Bahram, Seiamak
Publicado 2020