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

2022; American Association for the Advancement of Science; Volume: 7; Issue: 75 Linguagem: Inglês

10.1126/sciimmunol.abi4611

2470-9468

Cassandra R. Harapas, Kim S. Robinson, Kenneth Lay, Jasmine C. Wong, Ricardo Moreno Traspas, Nasrin Nabavizadeh, Annick Rass-Rothschild, Bertrand Boisson, Scott Drutman, Pawat Laohamonthonkul, 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 Casanova, Jonathan A. Bernstein, Franklin L. Zhong, Seth L. Masters, Bruno Reversade,

Ubiquitin and proteasome pathways

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