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

  • Writer: DL
    DL
  • Sep 2, 2021
  • 1 min read

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.



 
 
 

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Inflammation Genomics Lab

Dahdaleh Institute of Genomic Medicine

McGill University Genome Center
McGill Research Centre on Complex Traits

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© 2018 by David Langlais

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