Article
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.
The Journal of experimental medicine - 5 Jun 2023
Thouenon Romane, Chentout Loïc, Moreno-Corona Nidia, Poggi Lucie, Lombardi Emilia Puig, Hoareau Benedicte, Schmitt Yohann, Lagresle-Peyrou Chantal, Bustamante Jacinta, André Isabelle, Cavazzana Marina, Durandy Anne, Casanova Jean-Laurent, Galicier Lionel, Fadlallah Jehane, Fischer Alain, Kracker Sven
Abstract excerpt
Here, we report on a heterozygous interferon regulatory factor 4 (IRF4) missense variant identified in three patients from a multigeneration family with hypogammaglobulinemia. Patients' low blood plasmablast/plasma cell and naïve CD4 and CD8 T cell counts contrasted with high terminal effector CD4 and CD8 T cell counts. Expression of the mutant IRF4 protein in control lymphoblastoid B cell lines reduced the...
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