Satoshi Okada

authors.elsevier.com/sd/article/S00…
Most patients with RELA deficiency carry nonsense or frameshift variants. Mutations before aa290 cause haploinsufficiency, while those after aa290 act dominantly, often with excess type I IFN and more severe disease.

Neutralizing antibodies to type I interferons were detected in 10.6% of critical COVID-19 cases, whereas they were detected in 1% of mild COVID-19 cases in Japan. Possession of these antibodies is a risk for severe COVID-19, as confirmed in Japan.
rdcu.be/cRm9n

We investigated the mechanism underlie multifocal osteomyelitis in MSMD patients with poor response to IFN-g. It took more than 8 years from the first idea.
authors.elsevier.com/a/1dIFG_25Pv73…