Skip to content

What I’m reading today: “Inborn Errors of Type 1 IFN Immunity in Patients with Life-Threatening COVID-19”

EM SARS-COV-2 emerging from apoptotic cells: NIAID

This article from Science magazine, September 24, 2020, in which I have to look up a lot of words… IFN is short for interferon, for example, and TLR is short for toll-like receptor; IRF is short for interferon regulatory factor. That doesn’t clear it up, much. Here is the abstract:

Clinical outcome upon infection with SARS-CoV-2 ranges from silent infection to lethal COVID-19. We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern TLR3- and IRF7-dependent type I interferon (IFN) immunity to influenza virus, in 659 patients with life-threatening COVID-19 pneumonia, relative to 534 subjects with asymptomatic or benign infection. By testing these and other rare variants at these 13 loci, we experimentally define LOF variants in 23 patients (3.5%), aged 17 to 77 years, underlying autosomal recessive or dominant deficiencies. We show that human fibroblasts with mutations affecting this pathway are vulnerable to SARS-CoV-2. Inborn errors of TLR3- and IRF7-dependent type I IFN immunity can underlie life-threatening COVID-19 pneumonia in patients with no prior severe infection.

It’s not peer-reviewed yet, so the TLR3- and IRF7-dependent type 1 IFN immunity is not certain.. there’s only 3.5% of patients with severe disease who have loss-of-function genetic variants in specific areas; the other patients don’t have explanations for their severe illness in genetic variants, at least not those that were defined. One small step…

No comments yet

Leave a Comment

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

This site uses Akismet to reduce spam. Learn how your comment data is processed.

%d bloggers like this: