Clinical and Laboratory ObservationSuccessful Use of the New Immune-suppressor Sirolimus in IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome)
Section snippets
Clinical Report
Patient 1 is the only male child of unrelated white parents, born at term with an uneventful medical history. At the age of 7 years, he had development of dermatitis, affecting hands and feet, and bloody-watery diarrhea without any evidence of infection. Initially, food allergy was suspected on the basis of markedly elevated serum immunoglobulin E (IgE) levels (17370 kU/L). Dramatic worsening of diarrhea, unresponsive to steroid treatment and an elemental diet with an amino acid–based formula
Discussion
Therapeutic options to control the life-threatening symptoms, caused by mutations of FOXP3, are limited. The most common immunosuppressive treatment, a combination of steroids and the calcineurin suppressive agents, CsA or tacrolimus, is only partially effective, and the dose is limited in large part by renal toxicity. Because of these shortfalls, we explored the clinical utility of sirolimus in 3 patients with IPEX caused by mutations of FOXP3. Unlike CsA or tacrolimus, sirolimus does not
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2021, Journal of Allergy and Clinical ImmunologyClinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome
2020, Journal of Allergy and Clinical Immunology: In PracticeCitation Excerpt :Among the 370 patients, 312 patients (275 families) had mutations in FOXP3 (IPEX patients) and 58 patients (47 families) had mutations in other genes (IPEX-like patients) (Table E1, available in this article's Online Repository at www.jaci-inpractice.org). The specific mutations for 8 of the patients (6 patients with FOXP3 deficiency and 2 patients with IL2RA deficiency) were not reported, so we did not have access to those details.4,7,62,87 Overall, there were 111 different FOXP3 gene mutations identified in the 306 patients from 270 families (Figure 5).
Treatment with rapamycin can restore regulatory T-cell function in IPEX patients
2020, Journal of Allergy and Clinical ImmunologyGastrointestinal Manifestations of Immunodeficiency
2020, Pediatric Gastrointestinal and Liver Disease, Sixth EditionLong-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study
2018, Journal of Allergy and Clinical ImmunologyCurcumin attenuates the scurfy-induced immune disorder, a model of IPEX syndrome, with inhibiting Th1/Th2/Th17 responses in mice
2017, PhytomedicineCitation Excerpt :The most common immunosuppressive treatment, a combination of steroids and the calcineurin suppressive agents CsA or tacrolimus, is partially effective, and the dose is limited in large part by renal toxicity. There is a report that sirolimus controlled the gastrointestinal and dermatologic symptoms of IPEX in three patients without significant side effects (Bindl et al., 2005). Presently, hematopoietic stem cell transplantation (HSCT) is the best hope to cure IPEX even though its success is uncertain.