A patient presented with overlapping clinical and laboratory features of 2 rare autoinflammatory diseases, NLRP1-associated autoinflammation with arthritis and dyskeratosis and familial multiple self-healing palmoplantar carcinoma. Her severe inflammatory attack was treated with the IL-1 receptor-α inhibitor anakinra along with the Janus kinase inhibitor ruxolitinib. Three years into the treatment, the patient's inflammatory symptoms are completely in remission.
Keywords: Autoinflammatory disorder; IL1RA-inhibitor; NLRP1; anakinra; dyskeratosis; inborn error of immunity; ruxolitinib.
© 2024 The Authors.