Gene Defect Discovered That Leads to Allergic and Autoimmune Disease

An 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
KREMS, Austria - May 25, 2022 - PRLog -- Inflammation of the skin and the esophagus, food allergy and asthma are just some of the symptoms of a now 12-year-old boy who was the first to have a mutation on the IL-33 gene. An international team led by a physician from the Karl Landsteiner University for Health Sciences, Krems, discovered this new disease entity. Their description of a single case provides completely new insights into the in vivo functions of IL-33, which is considered a central upstream regulator of human immune responses. So far, studies on its function were limited to human derived in vitro cellular or animal models. This discovery of an overexpression of IL-33 in humans helps to gain new insights in the consequences of its dysregulation in humans. Concomitantly, it also opens up potential therapeutic options for affected patients.

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:

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


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