A Chromosomal Duplication Encompassing Interleukin-33 Causes aNovel Hyper IgE Phenotype Characterized by EosinophilicEsophagitis and Generalized Autoimmunity.

Marwaha A.K. et al.

Interleukin (IL)-33 is a member of the IL-1 cytokine family and is secreted by fibroblasts, endothelial cells, and epithelial cells in tissues (lung, skin, and gastrointestinal) that are exposed to the environment. 1 IL-33 is stored in the nucleus and environmental allergens trigger RIPK1-caspase 8 ripoptosome activation in epithelial cells to enable IL-33 maturation and release. 2 IL-33 signals via its receptor ST2, which is found on multiple immune cells, such as eosinophils, mast cells, T cells, macrophages, basophils, and type 2 innate lymphoid cells, which all promote type-2 innate immune reactions. 3 Therefore, IL-33 plays a central role in promoting allergic inflammatory responses in diseases such as eosinophilic esophagitis (EoE), allergy to food/inhalants, asthma, and atopic dermatitis. Genome-wide association data of these conditions consistently report polymorphisms in the IL-33 gene as a risk factor. 4 Thus, IL-33 has been proposed as a therapeutic target for these conditions. In animal models, IL-33 has been mechanistically linked with allergic, autoimmune, rheumatologic, and inflammatory bowel diseases. 5 However, monogenic human diseases caused by either gain-of-function or loss-of-function variants in the IL-33 gene have not been reported previously.

D-Plex RNA-seq kit

Share this article

April, 2022


Products used in this publication

  • default alt
    D-Plex mRNA-seq Kit for Illumina


 See all events


 See all news

The European Regional Development Fund and Wallonia are investing in your future.

Extension of industrial buildings and new laboratories.

       Site map   |   Contact us   |   Conditions of sales   |   Conditions of purchase   |   Privacy policy   |   Diagenode Diagnostics