CeMM: Loss of the IL-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

The human immune system is essential for the prevention of infections and the detection of tumor cells, and severe congenital allergic (atopic) diseases can be the result of a genetic disorder effecting the immune system. An international team of researchers from the USA, UK and Kaan Boztug's research group at the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) in Vienna has now discovered a novel genetic defect that leads to infections and severe atopic reactions.

This new study identifies a novel primary immunodeficiency, clarifying the contribution of IL-6 to the phenotype of patients with mutations in IL6ST, STAT3 and ZNF341, genes encoding different components of the IL-6 signalling pathway, and alerts us to the potential toxicity of drugs targeting the IL-6R. The results were published on June 24, 2019 in the Journal of Experimental Medicine.  

The Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) was launched by the Ludwig Boltzmann Gesellschaft in April 2016 together with its partner institutions CeMM, the Research Center for Molecular Medicine of the Austrian Academy of Sciences, the Medical University of Vienna, and the Children’s Cancer Research Institute (CCRI) of the St. Anna Children’s Hospital Vienna. Its research remit is the thorough analysis of rare diseases of the hematopoietic system, the immune system and the nervous system – as such not only dedicated to provide research for the development of personalized therapeutics for affected patients, but with similar efforts dedicated to unravel novel insights into human biology. Benefitting from full access to the infrastructure of its partner institutions, LBI-RUD has established a coordinated research programme, integrating and considering scientific, sociologic, ethical and economical aspects of rare diseases. http://rud.lbg.ac.at/ 

Publication: 

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses, Journal of Experimental Medicine, DOI 10.1084/jem.20190344.

Funding: 

The study has been supported by the European Research Council (ERC StG 310857), the Austrian Science Fund (FWF 29951-B30), the Austrian Academy of Sciences (ÖAW DOC Fellowship), the Medical Research Council und Cancer Research UK.