Article
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Blood - 31 Aug 2023
Kostel Bal Sevgi, Giuliani Sarah, Block Jana, Repiscak Peter, Hafemeister Christoph, Shahin Tala, Kasap Nurhan, Ransmayr Bernhard, Miao Yirun, van de Wetering Cheryl, Frohne Alexandra, Jimenez Heredia Raul, Schuster Michael, Zoghi Samaneh, Hertlein Vanessa, Thian Marini, Bykov Aleksandr, Babayeva Royala, Bilgic Eltan Sevgi, Karakoc-Aydiner Elif, Shaw Lisa E, Chowdhury Iftekhar, Varjosalo Markku, Argüello Rafael J, Farlik Matthias, Ozen Ahmet, Serfling Edgar, Dupré Loïc, Bock Christoph, Halbritter Florian, Hannich J Thomas, Castanon Irinka, Kraakman Michael J, Baris Safa, Boztug Kaan
Abstract excerpt
The nuclear factor of activated T cells (NFAT) family of transcription factors plays central roles in adaptive immunity in murine models; however, their contribution to human immune homeostasis remains poorly defined. In a multigenerational pedigree, we identified 3 patients who carry germ line biallelic missense variants in NFATC1, presenting with recurrent infections, hypogammaglobulinemia, and decreased...
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