HIGHLIGHTS
- who: BRIEF DEFINITIVE REPORT from the Rockefeller University have published the research: Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia, in the Journal: (JOURNAL) of 31/03/2023
- what: When the analysis was restricted to the four genes with identified patients (IFNAR1, STAT2, TLR7, and TYK2), the cumulative frequency of recessive deficiency, based on the conservative estimate of pLOF variants, was 4 u00d7 10-5 for a cumulative MAF of 0.002. The authors provide evidence that recessive and complete defects at these four loci can underlie ~10% of . . .
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