New Publication Describing Epigenetic Immune Cell Quantification in Newborns


09 Aug 2021

We are very happy and proud about the publication by our collaborators at the Leiden University Medical Center (LUMC, Netherlands) with the title:

"Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency" (Blom, M., Pico-Knijnenburg, I., Imholz, S. et al., J Clin Immunol (2021).


The original article describes the use of Epimune's epigenetic immune cell counting technology as an approach to reduce unnecessary clinical referrals of newborns after a positive SCID screening result. This is important as a high number of SCID screening findings turn out to be either false-positives or represent non-actionable secondary findings - both of which should be kept to a minimum to avoid parental anxiety and unnecessary strain to the newborn baby.


The publication also highlights the potential of Epimune's technology to be used as a first-line screening test for the detection of additional Inborn Errors of Immunity (IEI) beyond SCID .


We congratulate our friends at LUMC to this great achievement and feel further encouraged to continue on our path to develop transformative diagnostics for early detection of disorders of the immune system.