Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

摘要

Chronic benign lymphoproliferation and autoimmune cytopenias are the main features requiring treatment in FAS mutant patients with autoimmune lymphoprolifera- tive syndrome (ALPS). 1,2 Successful use of the mTOR inhibitor rapamycin was initially reported in the treat- ment of refractory cytopenia in 3 ALPS-FAS patients. 3 The remarkable efficacy as a second-line agent for this indica- tion was confirmed in a recent prospective study includ- ing a further 9 ALPS-FAS patients. 4 Here, we analyze aspects of rapamycin therapy that have so far not been addressed including first- versus second-line therapy, comprehensive biomarker responses, and the conse- quences of stopping rapamycin by reporting our experi- ence in 28 ALPS-FAS patients.