Article
Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents.
The Journal of clinical investigation - 1 Sept 2021
Lévy Romain, Langlais David, Béziat Vivien, Rapaport Franck, Rao Geetha, Lazarov Tomi, Bourgey Mathieu, Zhou Yu J, Briand Coralie, Moriya Kunihiko, Ailal Fatima, Avery Danielle T, Markle Janet, Lim Ai Ing, Ogishi Masato, Yang Rui, Pelham Simon, Emam Mehdi, Migaud Mélanie, Deswarte Caroline, Habib Tanwir, Saraiva Luis R, Moussa Eman A, Guennoun Andrea, Boisson Bertrand, Belkaya Serkan, Martinez-Barricarte Ruben, Rosain Jérémie, Belkadi Aziz, Breton Sylvain, Payne Kathryn, Benhsaien Ibtihal, Plebani Alessandro, Lougaris Vassilios, Di Santo James P, Neven Bénédicte, Abel Laurent, Ma Cindy S, Bousfiha Ahmed Aziz, Marr Nico, Bustamante Jacinta, Liu Kang, Gros Philippe, Geissmann Frédéric, Tangye Stuart G, Casanova Jean-Laurent, Puel Anne
Abstract excerpt
We studied a child with severe viral, bacterial, fungal, and parasitic diseases, who was homozygous for a loss-of-function mutation of REL, encoding c-Rel, which is selectively expressed in lymphoid and myeloid cells. The patient had low frequencies of NK, effector memory cells reexpressing CD45RA (Temra) CD8+ T cells, memory CD4+ T cells, including Th1 and Th1*, Tregs, and memory B cells, whereas the counts and...
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