Article

DPP9 deficiency: an Inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling

2021-02-03

Abstract excerpt

Dipeptidyl peptidase 9 (DPP9) is a direct inhibitor of NLRP1, but how it impacts inflammasome regulation in vivo is not yet established. Here, we report two families with immune-associated defects, skin pigmentation abnormalities and neurological deficits that segregate with biallelic DPP9 rare variants. Using patient-derived primary cells and biochemical assays, these variants are shown to behave as hypomorphic o...

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Literature Corpus work: e8f22c3a-bf36-58bd-9847-830bc308cf24
DOI: 10.1101/2021.01.31.21250067

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