Journal of Clinical Immunology

, 28:581 | Cite as

Use of Sirolimus in IPEX and IPEX-Like Children

  • Pierre L. Yong
  • Pierre Russo
  • Kathleen E. Sullivan
Original Paper

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

IPEX enteropathy regulatory T cells sirolimus rapamycin 

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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Pierre L. Yong
    • 1
    • 2
    • 5
  • Pierre Russo
    • 3
  • Kathleen E. Sullivan
    • 4
  1. 1.Philadelphia Veterans Affairs Medical CenterPhiladelphiaUSA
  2. 2.Division of Pulmonary, Allergy and Critical CareHospital of the University of PennsylvaniaPhiladelphiaUSA
  3. 3.Division of PathologyChildren’s Hospital of PhiladelphiaPhiladelphiaUSA
  4. 4.Division of Allergy and ImmunologyChildren’s Hospital of PhiladelphiaPhiladelphiaUSA
  5. 5.Robert Wood Johnson Clinical Scholars ProgramUniversity of Pennsylvania School of MedicinePhiladelphiaUSA

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