The advent of next-generation sequencing (NGS) in 2010 has transformed medicine, particularly
the growing field of inborn errors of immunity. NGS has facilitated the discovery of novel …

… Patients with GOF mutations have a B-lymphoproliferative … B cells (although B-cell and
T-cell counts are in the normal range), whereas enhanced CARD11 activity drives uncontrolled B-…

… different for IgE-producing B cells. Following their activation and initial expansion, IgE-expressing
B cells are either rapidly becoming plasma cells at the expense of memory B cells, or …

… One patient with IRF7 deficiency was tested and was seropositive for several common
viruses, including various influenza A and B viruses (figs. S10 and S11). These genetic defects …

… b shows a representative experiment of three performed. GUS is used as a housekeeping
control gene. NS, not stimulated. c, The same experimental procedure as in b was followed, …

We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in
six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus …

… endothelial injury [eg, troponin and B-type natriuretic peptide (BNP)] and … (B) Fold-increase
in the concentrations of cytokines in the … For (A) and (B), statistical analysis was performed as …

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection fatality rate (IFR)
doubles with every 5 y of age from childhood onward. Circulating autoantibodies neutralizing …

Severe influenza disease strikes otherwise healthy children and remains unexplained. We
report compound heterozygous null mutations in IRF7, which encodes the transcription factor …

Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical
COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in …