A project summary as written by Carmen Scheibenbogen and Madlen Lobel:
There is ample evidence of an autoimmune pathomechanism in a subset of patients with CFS. We
could recently show autoantibodies against adrenergic (AdR) and muscarinic acetylcholine (MAchR)
receptors in a subset of CFS/ME patients which might be associated with disease pathology (1).
Norwegian studies show responsiveness to B cell depletion with rituximab in approximately 60% of
CFS patients (2, 3). In this project we therefore want to analyze specific cellular and genetic
autoimmune traits in CFS/ME. In patients with and without AdR and MAchR autoantibodies we will
analyze the prevalence of single nucleotide polymorphisms (SNPs) with functional impact on genes
associated with autoimmune diseases. Further, we will analyze risk variants for autoimmunity in the
non-coding genome in form of lncRNAs, as most risk variants with a regulatory function on immune
cells are found in non-coding regions. In addition, the frequency and function of immune cell subsets
with pathogenic function in autoimmunity including type I IFN producing pDCs and regulatory B cells
will be analyzed. Our goal is a better characterization of the subset of patients with an autoimmune
cause and to better understand the pathomechanisms underlying autoimmunity in CFS/ME which
might result in improved diagnosis and treatment in the future.