Severe Food Allergy as a Variant of IPEX Syndrome Caused by a Deletion in a Noncoding Region of the FOXP3 Gene

Torgerson, Troy R.; Linane, Avriel; Moes, Nicolette; Anover, Stephanie; Mateo, Véronique; Rieux-Laucat, Frédéric; Hermine, Olivier; Vijay, Shashi; Gambineri, Eleonora; Cerf‐Bensussan, Nadine; Fischer, Alain; Ochs, Hans D.; Goulet, Olivier; Ruemmele, Frank M

doi:10.1053/j.gastro.2007.02.044

Cited by 241 publications

(141 citation statements)

References 65 publications

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“…Genetic and immunological evidence supports an important role for Treg cells in enforcing oral tolerance to foods [67][68][69]. This tolerance depends on iTreg-cell development from naïve conventional CD4+ T cells (CD4+ Tconv), which are activated in presence of TGF-β1 and CD103+ dendritic cells (DCs) [70][71][72] regulating T helper 2 cell responses at the mucosal surfaces [73,74].…”

Section: Regulatory T Cells and Tolerancementioning

confidence: 99%

Physiology and Pathology of Immune Dysregulation: Regulatory T Cells and Anergy

Torres¹,

López-Casado²,

León³

et al. 2017

Physiology and Pathology of Immunology

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The immune system is responsible for the defense of the organism. It controls what is introduced into it and identifies it as self from non-self. The defensive mechanisms activated by the immune system are directed against pathological microbes and toxic or allergenic proteins, and it must avoid responses that produce excessive damage of self-tissues, inducing tolerance to avoid autoimmunity and other immunopathologies. Regulatory Tcells play an essential role in these active processes, using several distinct suppressive mechanisms. The immune dysregulatory diseases result from defects affecting regulatory T cell development and/or function, including the impact of essential genes mutations for Tregulatory cell functions and the associated autoimmune syndromes.

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Section: Regulatory T Cells and Tolerancementioning

confidence: 99%

Physiology and Pathology of Immune Dysregulation: Regulatory T Cells and Anergy

Torres¹,

López-Casado²,

León³

et al. 2017

Physiology and Pathology of Immunology

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“…7 and 8 were brothers carrying a mutation upstream of exon 1, leading to a complete lack of FOXP3 expression. 10 In patient nos. 1, 2 and 11, the mutations are predicted to allow the expression of a truncated protein.…”

Section: Patientsmentioning

confidence: 99%

“…5,6 The diagnosis of IPEX syndrome is confirmed by finding a mutation within the FOXP3 gene (Xp11.23). [7][8][9][10] Here, we describe the morphological features of intestinal biopsies in patients with IPEX syndrome, including a study of circulating anti-enterocyte antibodies. The aim is to develop different tools to allow early identification of IPEX syndrome from endoscopic biopsy specimens.…”

mentioning

confidence: 99%

Digestive histopathological presentation of IPEX syndrome

et al. 2009

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Immunodysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX) syndrome is a well recognized and particularly severe form of autoimmune enteropathy. It has an X-linked recessive transmission, and is caused by mutations in the FOXP3 gene. We studied the intestinal morphological changes characterizing IPEX syndrome in a series of 12 children with a molecularly confirmed diagnosis. Histological examination of duodenal, gastric and colonic biopsies were retrospectively reviewed and compared by two independent experienced pathologists. In parallel, the presence of circulating anti-enterocyte antibodies was analysed using an indirect immunofluorescence technique and a quantitative radioligand assay against the 75-kDa autoantigen. The morphology of the inflammatory gut lesions could be categorized into three different entities, namely graft-vs-host disease-like changes (9/12 patients), a coeliac disease-like pattern (2/12) and an enteropathy with a complete depletion of goblet cells (1/12). Our results do not suggest any phenotypegenotype correlation. Circulating antibodies were detected in all 12 patients, with an anti-brush border pattern (11/12) and anti-goblet cell antibodies (1/12), as well as by a radioligand assay. The histological presentation of autoimmune enteropathy is rather variable. However, a graft-vs-host disease-like pattern associated with positive anti-enterocyte antibodies is the most frequent intestinal presentation of IPEX syndrome, and constitutes a very valuable tool for pathologists to suspect this diagnosis.

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“…These represent rare X-linked multisystem disorders caused to a genetic abnormality -mutation(s) in the gene coding for the transcription factor Foxp3 on the X chromosome. Young boys affected by this mutation present with enteropathy, endocrinopathy and severe infections, as well as a number of additional autoimmune disorders, and marked allergic manifestations (38,98), which include food allergies, atopic dermatitis, hyper-IgE and eosinophilia (99). Skewing towards Th2 is seen in humans as part of the disease process and cell analysis has shown a substantial decrease or absence of CD4+CD25+Foxp3+ cells.…”

Section: Studies Of Treg In Human Bronchial Asthmamentioning

confidence: 99%

Regulatory T cells in bronchial asthma

Ryanna¹,

Stratigou²,

Safinia

et al. 2009

Allergy

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The main focus of this review was the role of a specific subset of T cells with immunomodulatory or immunosuppressive activities, termed regulatory T cells (Tregs), in the pathogenesis and treatment of bronchial asthma. Evidence that these cells are important in maintaining immune homeostasis in health and exhibit impaired activity in active disease will be discussed. Their therapeutic potential is perhaps best highlighted by evidence that therapies with demonstrated efficacy in allergic and asthmatic disease are associated with the induction or restoration of regulatory T‐cell function, e.g. glucocorticoids, allergen immunotherapy. Strategies to improve the safety and efficacy of these treatments and that induce or boost Tregs in bronchial asthma are discussed.

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Severe Food Allergy as a Variant of IPEX Syndrome Caused by a Deletion in a Noncoding Region of the FOXP3 Gene

Cited by 241 publications

References 65 publications

Physiology and Pathology of Immune Dysregulation: Regulatory T Cells and Anergy

Physiology and Pathology of Immune Dysregulation: Regulatory T Cells and Anergy

Digestive histopathological presentation of IPEX syndrome

Regulatory T cells in bronchial asthma

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