{Reference Type}: Case Reports
{Title}: Combined therapy with IL-1 and JAK inhibitors in a patient with the NLRP1 gene mutation and a complex inflammatory phenotype.
{Author}: Burlakov V;Kozlova A;Pershin D;Rodina Y;Khamin I;Novichkova G;Aksentijevich I;Shcherbina A;
{Journal}: J Allergy Clin Immunol Glob
{Volume}: 3
{Issue}: 3
{Year}: 2024 Aug
暂无{DOI}: 10.1016/j.jacig.2024.100251
{Abstract}: 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.