Use of Sirolimus in IPEX and IPEX-Like Children

Abstract

Our patients exhibited features of enteropathy and recurrent infections with bacterial and viral pathogens. Before initiating sirolimus, six patients were treated with corticosteroids. Several also received other immunosuppressive agents. After starting sirolimus, six patients had improvement in diarrhea, and two were able to decrease corticosteroid dosages. Several also had significantly decreased number of infections after treatment. Of the three patients with post-treatment duodenal biopsies, two showed improvement in villous architecture. No significant adverse events occurred. Our experience suggests that sirolimus is a clinically effective and safe therapeutic option in IPEX and IPEX-like patients.

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.…”

“…In another study, Araki et al (25) found that treatment of a severe refractory colonic and perianal Chrone's disease with sirolimus may result in a marked improvement in symptoms of enteropathy. Yong et al (26) also reported the impact of sirolimus in children with IPEX and IPEX-like entheropathy. Although satisfying results of adprovement in the patients' weight.…”

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].…”

Neonatal Diabetes Mellitus in the Structure of IPEX Syndrome

“…С целью коррекции имму-нодефицита возможно применение иммуносупрес-сивной монотерапии (циклоспорин А, такролимус) или комбинированной -сочетание иммуносупрес-сивных препаратов со стероидными. Сиролимус (рапамицин) показал свою эффективность, у не-скольких пациентов наблюдалась стойкая ремиссия заболевания [6,22]. Кроме иммуносупрессивной, проводится заместительная терапия эндокринных нарушений, адекватная нутриционная поддержка, симптоматическая терапия.…”