Human REL deficiency: our new collaborative report is now published in JCI

Thanks to a close collaboration between our lab (Dr Mehdi Emam, Dr David Langlais), Dr Mathieu Bourgey from McGill C3G and Dr Romain Lévy, Dr Jean-Laurent Casanova, Dr Anne Puel and many others, this massive piece of science is now published in the Journal of Clinical Investigation (https://doi.org/10.1172/JCI150143).

We report a child with a rare form of combined immunodeficiency (CID): BCG disease, chronic mucocutaneous candidiasis (CMC), cryptosporidiosis, CMV disease, and shingles, with overt T and B cell deficiencies. Functional genomics reveal the essential role for cREL in human in the maturation and function of multiple leukocyte subsets, including for the activation of naïve T and B cells and monocytes.