biostudies-literatureOswalt CJNCI NIH HHS284-290https://www.ebi.ac.uk/biostudies/studies/S-EPMC9172893biostudies-literatureUnknown45(6)The mechanisms underlying tumor immunosurveillance and their association with the immune-related adverse events (irAEs) associated with checkpoint inhibitor immunotherapies remain poorly understood. We describe a metastatic melanoma patient exhibiting multiple episodes of spontaneous disease regression followed by the development of several irAEs during the course of anti-programmed cell death protein 1 antibody immunotherapy. Whole-exome next-generation sequencing studies revealed this patient to harbor a pyrin inflammasome variant previously described to be associated with an atypical presentation of familial Mediterranean fever. This work highlights a potential role for inflammasomes in the regulation of tumor immunosurveillance and the pathogenesis of irAEs.Journal of immunotherapy (Hagerstown, Md. : 1997)Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events.PMC9172893R37 CA249085R01 CA251136Haykal TDeVito NCKo DCOswalt CJAl-Rohil RNTheivanthiran BHanks BAHoltzhausen ASalama AKSfalseIdentification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events.The mechanisms underlying tumor immunosurveillance and their association with the immune-related adverse events (irAEs) associated with checkpoint inhibitor immunotherapies remain poorly understood. We describe a metastatic melanoma patient exhibiting multiple episodes of spontaneous disease regression followed by the development of several irAEs during the course of anti-programmed cell death protein 1 antibody immunotherapy. Whole-exome next-generation sequencing studies revealed this patient to harbor a pyrin inflammasome variant previously described to be associated with an atypical presentation of familial Mediterranean fever. This work highlights a potential role for inflammasomes in the regulation of tumor immunosurveillance and the pathogenesis of irAEs.2022-01-01T00:00:00Z2022 Jul-Aug 012024-11-12T21:23:05.521Z2024-11-12T21:23:05.521ZS-EPMC91728933562199210.1097/CJI.0000000000000425