title: Use of sirolimus in IPEX and IPEX-like children.
abstract: BACKGROUND
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Philadelphia Veterans Affairs Medical Center, Philadelphia, PA, USA. pyong@mail.med.upenn.edu
authors.forename: Pierre L
authors.initials: PL
authors.lastname: Yong
authors.forename: Pierre
authors.initials: P
authors.lastname: Russo
authors.forename: Kathleen E
authors.initials: KE
authors.lastname: Sullivan
mesh_terms: D015331:Cohort Studies; D003967:Diarrhea / Q000188:drug therapy; D004305:Dose-Response Relationship, Drug; D004382:Duodenitis / Q000188:drug therapy; D004386:Duodenum / Q000187:drug effects* / Q000276:immunology / Q000473:pathology; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics / Q000276:immunology; D006801:Humans; D016867:Immunocompromised Host; D007223:Infant; D007231:Infant, Newborn; D007239:Infections / Q000150:complications / Q000188:drug therapy; D008297:Male; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications / Q000188:drug therapy* / Q000235:genetics / Q000276:immunology* / Q000503:physiopathology; D020123:Sirolimus / Q000008:administration & dosage* / Q000009:adverse effects; D014777:Virus Diseases / Q000150:complications / Q000188:drug therapy
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; D020123:Sirolimus