DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

• DOI: 10.1126/sciimmunol.abi4611
• Publication Date: 2022-09-16T17:57:15Z
• Authors: Cassandra R. Harapas; Kim S. Robinson; Kenneth Lay; Jasmine Wong; Ricardo Moreno Tr...; Nasrin Nabavizadeh; Annick Rass-Roths...; Bertrand Boisson; Scott B. Drutman; Pawat Laohamontho...; Devon Bonner; Jingwei Rachel Xiong; Mark D. Gorrell; Sophia Davidson; Chien-Hsiung Yu; Mark D. Fleming; Jonas Gudera; Jerry Stein; Miriam Ben-Harosh; Emily Groopman; Akiko Shimamura; Hannah Tamary; Hülya Kayserili; Nevin Hatipoğlu; Jean-Laurent Casa...; Jonathan A. Berns...; Franklin L. Zhong; Seth L. Masters; Bruno Reversade
• Keywords: NLRP1; Obligate

Dipeptidyl peptidase 9 (DPP9) is a direct inhibitor of NLRP1, but how it affects inflammasome regulation in vivo not yet established. Here, we report three families with immune-associated defects, poor growth, pancytopenia, and skin pigmentation abnormalities that segregate biallelic