NLRP12-associated systemic autoinflammatory diseases in children

Abstract

Systemic autoinflammatory diseases (SAIDs) are a group of monogenic diseases characterized by disordered innate immunity, which causes excessive activation of inflammatory pathways. Nucleotide-binding leucine-rich repeat-containing receptor 12-related autoinflammatory disease (NLRP12-AID) is a newly identified SAID and a rare autosomal dominant disorder caused by mutations in the NLRP12 gene, which is also known as familial cold autoinflammatory syndrome 2 (FCAS2) and mostly occurs in childhood. A total of 33 cases of NLRP12-AID in children and 21 different mutation types have been reported to date. The disease is mainly characterized by periodic fever, accompanied by multisystem inflammatory damage. NLRP12-AID is diagnosed through early clinical identification and genetic detection. Emerging drugs targeting interleukin-1-related inflammatory pathways are expected to change the treatment options and improve the quality of life of pediatric patients. This article aims to summarize the characteristics and pathogenesis of reported NLRP12-AID cases in children and provide ideas for clinical diagnosis and treatment.