New Nature Medicine paper! A child with complete PD-1 deficiency.

Another great collaboration with Dr Jean-Laurent Casanova, Dr Masato Ogishi and Dr Mathieu Bourgey (McGill C3G) describing the first patient with complete PD-1 deficiency. A child with autosomal recessive complete PD-1 deficiency, with severe tuberculosis due to impaired IFNg production and reduction/malfunction of specific lymphocyte subsets. This susceptibility to TB was accompanied with multiple autoimmune phenotypes and the patient sadly succumbed from pulmonary autoimmunity.

This report have important implications in the management of PD-1 blockade immunotherapies and their side effects.

https://doi.org/10.1038/s41591-021-01388-5