Successful Use of the New Immune-suppressor Sirolimus in IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome)

Mammalian target of rapamycin activation underlies HSC defects in autoimmune disease and inflammation in mice

“…As shown in Figure 8C, 1 week of rapamycin treatment significantly extended the lifespan of scurfy mice, which is consistent with a report involving 2 immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) patients (17). However, this treatment inhibited neither the production of inflammatory cytokines (Supplemental Figure 8A) nor lymphoproliferation as manifested by splenomegaly (Supplemental Figure 8B) and the adenopathy (our unpublished observations).…”

New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency

“…Currently available treatments including steroids and cyclosporine have resulted in remission only in a subset of patients, then large doses of steroids are often necessary to control active disease. Patients with autoimmune entheropathy commonly do not respond to conventional treatment or other non-specific (26,27), there was no evidence of using sirolimus in treatment of enteropathy in LRBA deficient patients. In the current study, for the first time, four LRBA deficient patients unresponsive to non-specific immune-suppressive agents underwent sirolimus therapy.…”

X-linked immune dysregulation, polyendocrinopathy and enteropathy (IPEX syndrome): the description of a clinical case and a short literature review

“…Неко-торые авторы описывают положительный эффект иммуносупрессивных препаратов (циклоспорин А, такролимус, сиролимус и т.д. ), которые позволяют частично контролировать аутоиммунные наруше-ния [24,25]. Наиболее перспективным направлени-ем в терапии IPEX-синдрома считается пересадка костного мозга [11,26].…”