Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation.

ABSTRACT:

Importance

Familial chilblain lupus is a monogenic autosomal dominant form of cutaneous lupus erythematosus that in most cases is caused by mutations in the 3 prime repair exonuclease 1 (TREX1). Familial chilblain lupus presents in early childhood with cold-induced painful erythematous infiltrates leading to mutilation and is associated with systemic involvement illustrated by an elevated type I interferon (IFN) signature in the skin and blood. Effective treatment is currently not available.

Objectives

To evaluate the clinical response to the Janus kinase inhibitor baricitinib in familial chilblain lupus and assess the effect of cold on patient fibroblasts.

Design, setting, and participants

In this case series, 3 patients with familial chilblain lupus due to TREX1 mut

SUBMITTER: Zimmermann N 

PROVIDER: S-EPMC6440279 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature