Jean François Meritet

TL;DR: TREX1, encoding the major mammalian 3′ → 5′ DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity, and failure of which results in the triggering of an abnormal innate immune response.

TL;DR: In this article, the authors used a polymerase chain reaction (PCR) to detect varicella zoster virus in amniotic fluid and found that it was more sensitive than cell culture for the detection of the virus.

TL;DR: Deficiency of DNA-PKcs, a key AIRE partner, can present as an inflammatory disease with organ-specific autoimmunity, suggesting a role for DNA- PKcs in regulating autoimmune responses and maintaining AIRE-dependent tolerance in human subjects.

TL;DR: There are two types of interferon (IFN), as you know already, and the type 1 IFN which the authors are interested in for this syndrome is type 1IFN, specifically the alpha type.

TL;DR: In this paper , a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 un vaccinated SARS-CoV-2-infected individuals without pneumonia was performed.