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Follow on Google News | Gene Defect Discovered That Leads to Allergic and Autoimmune DiseaseAn international team led by a physician from the Karl Landsteiner University for Health Sciences, Krems, describes for the first time a mutation of the IL-33 gene in the human genome that results in multiple manifestations
By: Karl Landsteiner University of Health Sciences The human body's type-2 immune response serves to defend against larger pathogens, but also represents the hallmark of allergic inflammation. Interleukin 33 (IL-33), a so-called "alarmin" due to its release upon cellular damage, plays a central role in the initiation and regulation of allergic inflammation. Animal models in which its production is genetically up- or down-regulated have contributed to the understanding and suggested functions beyond allergic inflammation – but they allow only limited insight into the conditions in humans. Disease symptoms of a patient with a duplicated IL-33 gene now provide such insight for the first time. Original Publication: A chromosomal duplication encompassing IL-33 causes a novel Hyper IgE phenotype characterized by eosinophilic esophagitis and generalized autoimmunity. A. K. Marwaha, R. Laxer, M. Liang, A. M. Muise, T. Eiwegger & The immune dysregulation group. Gastroenterology, April 27, 2022, DOI:https://doi.org/ Scientific Contact Assoc. Prof. Priv.-Doz. Dr. Thomas Eiwegger Dept. of Pediatric and Adolescent Medicine, University Hospital St. Pölten Karl Landsteiner University of Health Sciences Dunant-Platz 1 3100 St. Pölten / Austria M +43 676 858 10 31740 E thomas.eiwegger@ Copy Editing & Distribution PR&D – Public Relations for Research & Education Dr. Barbara Bauder Kollersteig 68 3400 Klosterneuburg / Austria T +43 664 1576350 E bauder@prd.at W http://www.prd.at/ End
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