%0 Case Reports
%T Combined therapy with IL-1 and JAK inhibitors in a patient with the NLRP1 gene mutation and a complex inflammatory phenotype.
%A Burlakov V
%A Kozlova A
%A Pershin D
%A Rodina Y
%A Khamin I
%A Novichkova G
%A Aksentijevich I
%A Shcherbina A
%J J Allergy Clin Immunol Glob
%V 3
%N 3
%D 2024 Aug
%M 38706460
暂无%R 10.1016/j.jacig.2024.100251
%X 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.