The invention provides a probe set and a kit for detecting a pathogenic gene of an autoinflammatory disease. The probe set comprises probes capable of simultaneously specifically capturing pathogenicgenes affecting inflammasome defects, non-inflammasome defects and autoinflammatory diseases associated with defects in an interferon pathway. The probe set and the kit for detecting the pathogenic gene of the autoinflammatory disease are capable of simultaneously detecting the pathogenic genes of 50 types of known autoinflammatory diseases; based on the probe set which is high in targeted screening, stable and reliable in gene acquisition and used for detecting the pathogenic gene of the autoinflammatory disease, and combined with a high-throughput sequencing method, a diagnosis cycle of theautoinflammatory disease can be accelerated, the diagnostic efficiency can be improved, and several new diseases can be diagnosed, especially for children with the autoinflammatory diseases, so that the effects of no missed detection, no missed diagnosis, relatively small amount of data analysis, shortened inspection cycle are achieved.