Journal of Clinical Immunology

, 28:581

Use of Sirolimus in IPEX and IPEX-Like Children

Authors

    • Philadelphia Veterans Affairs Medical Center
    • Division of Pulmonary, Allergy and Critical CareHospital of the University of Pennsylvania
    • Robert Wood Johnson Clinical Scholars ProgramUniversity of Pennsylvania School of Medicine
  • Pierre Russo
    • Division of PathologyChildren’s Hospital of Philadelphia
  • Kathleen E. Sullivan
    • Division of Allergy and ImmunologyChildren’s Hospital of Philadelphia
Original Paper

DOI: 10.1007/s10875-008-9196-1

Cite this article as:
Yong, P.L., Russo, P. & Sullivan, K.E. J Clin Immunol (2008) 28: 581. doi:10.1007/s10875-008-9196-1

Abstract

Introduction

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.

Methods

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.

Keywords

IPEXenteropathyregulatory T cellssirolimusrapamycin

Copyright information

© Springer-Verlag 2008