Use of Sirolimus in IPEX and IPEX-Like Children
IPEX (immune dysregulation, polyendocrinopathy, enteropathy, and X-linked syndrome), a rare inflammatory disease caused by mutations of Foxp3, destroys the immunoregulatory environment of affected male infants. Data on optimal therapy are limited.
We reviewed the effect of sirolimus use in our cohort of IPEX and IPEX-like patients (n = 7).
Results and Discussion
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.
KeywordsIPEX enteropathy regulatory T cells sirolimus rapamycin
Dr. Pierre Yong is supported by a training grant from the Philadelphia Veterans Affairs Medical Center and the Robert Wood Johnson Clinical Scholars Program at the University of Pennsylvania.
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