Case of Autoinflammatory Syndrome with Mutation in NLRP1

Introduction Autoinflammatory syndromes are inherited disorders where the body's innate immune system becomes abnormally activated, leading to episodes of spontaneous inflammation and fever. These conditions are often characterized by recurrent fevers, rashes, joint pain, and inflammation in other organs. Presentation of the Case A 4-year-old male who has had recurrent periods of fever, abdominal pain, diarrhea, and arthralgia since the age of 2. Extensive microbiological investigations were negative. High-dose oral prednisone was started, leading to partial clinical improvement, because immunosuppression with methotrexate was started, with marked improvement. A genetic panel was performed, where a variant of uncertain significance was reported in the NLRP1 gene, variant c.392G>A. 6 months later, intestinal bleeding was added; mesalazine and enteral budesonide were added with improvement. Discussion Our case is relevant because although a variant of uncertain significance was reported, the clinical correlation with the reported mutation helped us provide early treatment, as the patient presented with fever, arthritis, abdominal pain, and intestinal bleeding.