[FRIAM] disruption of type I interferon

[Marcus Daniels]

Nice example of the power of whole exome sequencing.    Going to see if those isoforms show up in the microarray data I have. 

-----Original Message-----
From: Friam <friam-bounces at redfish.com> On Behalf Of u?l? ???
Sent: Thursday, September 24, 2020 12:43 PM
To: FriAM <friam at redfish.com>
Subject: [FRIAM] disruption of type I interferon

Scientists trace severe COVID-19 to faulty genes and autoimmune condition https://www.rockefeller.edu/news/29183-severe-covid-19-faulty-genes-autoimmune-condition/

Here's the SMMRY:
https://smmry.com/https://www.rockefeller.edu/news/29183-severe-covid-19-faulty-genes-autoimmune-condition/#&SM_LENGTH=10
> More than 10 percent of young and healthy people who develop severe COVID-19 have misguided antibodies that attack not the virus, but the immune system itself, new research shows.
> 
> Whether the proteins have been neutralized by so-called auto-antibodies, or were not produced in sufficient amounts in the first place due to a faulty gene, their missing-in-action appears to be a common theme among a subgroup of COVID-19 sufferers whose disease has thus far been a mystery.
> 
> Published in two papers in Science, the findings help explain why some people develop a disease much more severe than others in their age group-including, for example, individuals who required admission to the ICU despite being in their 20s and free of underlying conditions.
> 
> "These findings provide compelling evidence that the disruption of type I interferon is often the cause of life-threatening COVID-19," says Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at The Rockefeller University and a Howard Hughes Medical Institute investigator.
> 
> The findings are the first results being published out of the COVID Human Genetic Effort, an ongoing international project spanning over 50 sequencing hubs and hundreds of hospitals around the world, co-led by Casanova and Helen Su at the National Institute of Allergy and Infectious Diseases.
> 
> It soon became obvious that a significant number of people with severe disease carried rare variants in these 13 genes, and more than 3 percent of them were in fact missing a functioning gene.
> 
> Further experiments showed that immune cells from these patients did not produce any detectable type I interferons in response to SARS-CoV-2.
> 
> Examining 987 patients with life-threatening COVID-19 pneumonia, they found that more than 10 percent had auto-antibodies against interferons at the onset of their infection.
> 
> Biochemical experiments confirmed these auto-antibodies can effectively curb the activity of interferon type I. In some cases, they could be detected in blood samples taken before patients became infected; in others, they were found in the early stages of the infection, before the immune system had the time to mount a response.
> 
> The team continues to look for genetic variations that may affect other types of interferons or additional aspects of the immune response in COVID-19 outliers.



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