Andrea Martín-Nalda

TL;DR: The COVID Human Genetic Effort established to test the general hypothesis that life-threatening COVID-19 in some or most patients may be caused by monogenic inborn errors of immunity to SARS-CoV-2 with incomplete or complete penetrance finds an enrichment in variants predicted to be loss-of-function (pLOF), with a minor allele frequency <0.001.

TL;DR: This article reported very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years) from a cohort of 1,202 male patients aged 0.5 to 99 years with unexplained critical COVID-19 pneumonia.

TL;DR: This work explores the possibility of CVID being originated by an oligogenic model with the presence of heterozygous mutations in interacting proteins or by the accumulation of detrimental variants in particular immunological pathways, as well as performs association tests to detect association with rare genetic functional variation in the CVID cohort compared to healthy controls.

TL;DR: The study confirms the large variability in voriconazole trough plasma levels in children and a trend to non-linear pharmacokinetics in older patients and a significant relationship between plasma vorIconazole above the normal range and some adverse events is confirmed.

TL;DR: In this article, the authors performed an epigenome-wide association study (EWAS) to identify candidate loci regulated by this epigenetic mark that could be involved in the onset of COVID-19 in patients without comorbidities.