The paper is here:
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection
Having mutations in your DBR1 gene which make you vulnerable to viral brainstem infection may have significance for ME/CFS.
Took a while to get a copy of the full paper, paywall.
Worth the time & effort though
@Hip as you mention its significance to ME/CFS.
In addition to Dr. Chia,
@charles shepherd refers to McGarry F et al 1994 which cites evidence of brain stem viral infection in ME/CFS.
http://annals.org/aim/article-abstr...fatigue-syndrome?volume=120&issue=11&page=972
Most intriguing in this new discovery is that a single-gene mutation causing DBR1 deficiency pre-disposes those who have it to brain stem infection,
a specific anatomical area of the brain, by common infections like herpes simplex, influenza or norovirus.
The same researchers previously discovered a different single-gene mutation TLR3 which predisposes to lesions in a different anatomical area, the frontal & temporal lobes.
49 collaborators from 35 centers/institutions in 8 countries -- US, France, Japan, Italy, Portugal, Israel, Canada, & Saudi Arabia -- carried out the DBR1 research which is most impressive!
U.S. funding from not only multiple NIH Programs/Grants, but Department of Veteran Affairs & private foundations is also notable.
Brings to mind Drs. Montoya and Younger's current brain imaging research focusing on anatomical areas.
Excerpt from the paper:
A remarkable feature of partial DBR1 deficiency is that it disrupts immunity in a small, specific anatomical territory. The discovery of DBR1 deficiency in children with brainstem viral encephalitis adds weight to the emerging paradigm that single-gene inborn errors of immunity can underlie severe infections in otherwise healthy individuals...