TH2-driven manifestations of inborn errors of immunity

James, Alyssa E.; Abdalgani, Manar; Khoury, Paneez; Freeman, Alexandra F.; Milner, Joshua D.

doi:10.1016/j.jaci.2024.05.007

Journal of Allergy and Clinical Immunology

2024

DOI: 10.1016/j.jaci.2024.05.007

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TH2-driven manifestations of inborn errors of immunity

Alyssa E. James,

Manar Abdalgani,

Paneez Khoury

et al.

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2024

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Cited by 3 publications

References 138 publications

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Omics in allergy and asthma

Saito,

Tamari,

Motomura

et al. 2024

Journal of Allergy and Clinical Immunology

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Omics in allergy and asthma

Saito,

Tamari,

Motomura

et al. 2024

Journal of Allergy and Clinical Immunology

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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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Loss of tolerance to dietary proteins: From mouse models to human model diseases

Levescot,

Cerf‐Bensussan

2024

Immunological Reviews

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SummaryThe critical importance of the immunoregulatory mechanisms, which prevent adverse responses to dietary proteins is demonstrated by the consequences of their failure in two common but distinct human pathological conditions, food allergy and celiac disease. The mechanisms of tolerance to dietary proteins have been extensively studied in mouse models but the extent to which the results in mice can be extrapolated to humans remains unclear. Here, after summarizing the mechanisms known to control oral tolerance in mouse models, we discuss how the monogenic immune disorders associated with food allergy on the one hand, and celiac disease, on the other hand, represent model diseases to gain insight into the key immunoregulatory pathways that control immune responses to food antigens in humans. The spectrum of monogenic disorders, in which the dysfunction of a single gene, is strongly associated with TH2‐mediated food allergy suggests an important overlap between the mechanisms that regulate TH2 and IgE responses to food antigens in humans and mice. In contrast, celiac disease provides a unique example of the link between autoimmunity and loss of tolerance to a food antigen.

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TH2-driven manifestations of inborn errors of immunity

Cited by 3 publications

References 138 publications

Omics in allergy and asthma

Omics in allergy and asthma

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

Loss of tolerance to dietary proteins: From mouse models to human model diseases

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