Combined therapy with IL-1 and JAK inhibitors in a patient with the NLRP1 gene mutation and a complex inflammatory phenotype

Vasily Burlakov; Anna Kozlova; Dmitry Pershin; Yulia Rodina; Igor Khamin; Galina Novichkova; Ivona Aksentijevich; Anna Shcherbina

doi:10.1016/j.jacig.2024.100251

Combined therapy with IL-1 and JAK inhibitors in a patient with the NLRP1 gene mutation and a complex inflammatory phenotype

J Allergy Clin Immunol Glob. 2024 Apr 4;3(3):100251. doi: 10.1016/j.jacig.2024.100251. eCollection 2024 Aug.

Authors

Vasily Burlakov¹, Anna Kozlova¹, Dmitry Pershin¹, Yulia Rodina¹, Igor Khamin¹, Galina Novichkova¹, Ivona Aksentijevich², Anna Shcherbina¹

Affiliations

¹ Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
² Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Md.

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.

Keywords: Autoinflammatory disorder; IL1RA-inhibitor; NLRP1; anakinra; dyskeratosis; inborn error of immunity; ruxolitinib.

Publication types

Case Reports