A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

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 a...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10037104/
https://www.ncbi.nlm.nih.gov/pubmed/36917008
http://dx.doi.org/10.1084/jem.20221292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10037104/
https://www.ncbi.nlm.nih.gov/pubmed/36917008
http://dx.doi.org/10.1084/jem.20221292

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