A patient with a novel homozygous mutation in presented with autoimmune lymphoproliferative syndrome, and had impaired TCR-driven Fas ligand upregulation, providing a mechanism for the T cell lymphoproliferation.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7779661PMC
http://dx.doi.org/10.1016/j.jaci.2020.06.019DOI Listing

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