IPEX syndrome from diagnosis to cure, learning along the way

Bacchetta, Rosa; Roncarolo, Maria Grazia

doi:10.1016/j.jaci.2023.11.021

Cited by 7 publications

(1 citation statement)

References 76 publications

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“…In mice, Foxp3 gene mutation results in the scurfy (SF) mouse model, which serves as a unique model for a rapidly fatal disease characterized by immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (human IPEX syndrome [ 5 , 6 , 7 ]. IPEX syndrome is linked to various autoimmune disorders including type I diabetes (T1DM), eczema, thyroid dysfunction, interstitial pneumonitis, and renal disease [ 8 ]. In addition, there have been case reports of autoimmune hepatitis (AIH) in patients with IPEX syndrome [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Probiotic Limosilactobacillus reuteri DSM 17938 Changes Foxp3 Deficiency-Induced Dyslipidemia and Chronic Hepatitis in Mice

Nessim Kostandy,

Suh,

Tian

et al. 2024

Nutrients

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The probiotic Limosilactobacillus reuteri DSM 17938 produces anti-inflammatory effects in scurfy (SF) mice, a model characterized by immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (called IPEX syndrome in humans), caused by regulatory T cell (Treg) deficiency and is due to a Foxp3 gene mutation. Considering the pivotal role of lipids in autoimmune inflammatory processes, we investigated alterations in the relative abundance of lipid profiles in SF mice (± treatment with DSM 17938) compared to normal WT mice. We also examined the correlation between plasma lipids and gut microbiota and circulating inflammatory markers. We noted a significant upregulation of plasma lipids associated with autoimmune disease in SF mice, many of which were downregulated by DSM 17938. The upregulated lipids in SF mice demonstrated a significant correlation with gut bacteria known to be implicated in the pathogenesis of various autoimmune diseases. Chronic hepatitis in SF livers responded to DSM 17938 treatment with a reduction in hepatic inflammation. Altered gene expression associated with lipid metabolism and the positive correlation between lipids and inflammatory cytokines together suggest that autoimmunity leads to dyslipidemia with impaired fatty acid oxidation in SF mice. Probiotics are presumed to contribute to the reduction of lipids by reducing inflammatory pathways.

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Section: Introductionmentioning

confidence: 99%

Probiotic Limosilactobacillus reuteri DSM 17938 Changes Foxp3 Deficiency-Induced Dyslipidemia and Chronic Hepatitis in Mice

Nessim Kostandy,

Suh,

Tian

et al. 2024

Nutrients

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Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey

Bekis Bozkurt,

Bayram Catak,

Sahin

et al. 2024

J Clin Immunol

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Expanding the spectrum of IPEX: from new clinical findings to novel treatments

Voarino,

Consonni,

Gambineri

2024

Current Opinion in Allergy &Amp; Clinical Immunology

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Purpose of review This review aims to provide an overview of recent research findings regarding immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, focusing on clinical and immunological novelties, as well as emerging treatment strategies, based on the published literature of the last few years. Recent findings While it is well known that IPEX can present with a wide range of atypical clinical manifestations, new and unique phenotypes continue to emerge, making it essential to maintain a high level of clinical suspicion both at the time of diagnosis and during follow-up. This unpredictability in clinical presentation is further compounded by the lack of a clear genotype-phenotype correlation. A valuable tool for monitoring comes from recent discoveries regarding the epigenetic signature of Tregs, which, by correlating with disease severity, could prove to be a useful biomarker for diagnosis and ongoing management. The use of biological agents is emerging as an alternative to traditional immunosuppression. Additionally, ongoing studies are exploring the feasibility of gene therapy through the introduction of the wild-type FOXP3 into peripheral CD4+ T cells. Summary Further research is needed to fully understand the variable clinical presentations of IPEX and optimize tailored therapies, ensuring better management and outcomes for affected individuals.

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IPEX syndrome from diagnosis to cure, learning along the way

Cited by 7 publications

References 76 publications

Probiotic Limosilactobacillus reuteri DSM 17938 Changes Foxp3 Deficiency-Induced Dyslipidemia and Chronic Hepatitis in Mice

Probiotic Limosilactobacillus reuteri DSM 17938 Changes Foxp3 Deficiency-Induced Dyslipidemia and Chronic Hepatitis in Mice

Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey

Expanding the spectrum of IPEX: from new clinical findings to novel treatments

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