5 Jan 2023
We are pleased to announce the publication of a new paper by our clinical partners at the University of Exeter (UK).
The team led by Mathew B. Johnson at the Royal Devon University Healthcare NHS Foundation Trust used Epimune's epigenetic immune cell quantification technology to study patients with monogenetic autoimmune diseases in combination with early childhood diabetes.
Mutations in the FOXP3 gene lead to IPEX syndrome, a rare and severe autoimmune disease with clinical symptoms including severe diarrhea, diabetes and skin inflammation in various combinations. Severe courses manifest themselves shortly after birth and are usually fatal if untreated. Curative therapy by stem cell transplantation is possible, but must be confirmed by genetic diagnosis.
Depending on the mutation in the FOXP3 gene, the course of the disease can vary greatly and often early diabetes mellitus is the first and only symptom. At this stage, IPEX syndrome is difficult to distinguish from other monogenic diabetes diseases (without autoimmunity) that require different therapeutic regimens (e.g., Neonatal Diabetes Mellitus, NDM). It is therefore important to identify IPEX patients as early as possible, before life-threatening disease symptoms occur.
The FOXP3 protein is essential for the development of regulatory T cells (Treg), which have a general immunosuppressive function in the immune system. Scientists at Stanford University demonstrated earlier that IPEX patients show specific abnormalities in epigenetic Treg quantification that distinguish them from other monogenic autoimmune diseases and allow for better monitoring and therapy control (Narula et al., 2022).
Scientists at the University of Exeter have now been able to extend these findings in the largest cohort of IPEX patients to date and show that epigenetic Treg quantification enables early differentiation of IPEX cases from other monogenic diabetes diseases. As a result, targeted therapy can be initiated earlier, thereby improving the quality of life of affected patients.