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Our latest contribution to Cell: Human TBET deficiency

We are thrilled to announce that this large collaborative effort led by Dr Jean-Laurent Casanova (Rockefeller University) is now published in Cell: https://www.sciencedirect.com/science/article/pii/S0092867420314537


This article reports the first case of human TBET deficiency. This inherited deficiency caused by a loss-of-function mutation in the gene TBX21 (encoding the transcription factor TBET) underlies severe mycobacterial disease. The mutation affects the development of a variety of IFNg-producing lymphocyte subsets and the production of IFNg by innate and innate-like lymphocytes are impaired.


We would like to thank the expert contribution of Dr Mathieu Bourgey from the Canadian Centre for Computational Genomics (C3G), McGill Genome Center!

Source: Yang et al., Cell, 2020

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