Estibaliz Ruiz-Ortiz

TL;DR: Nine children with autosomal recessive MyD88 deficiency suffered from life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease, but these patients were otherwise healthy, with normal resistance to other microbes.

TL;DR: These findings support a model whereby the NLRP3 inflammasome, acting as an extracellular oligomeric complex, amplifies the inflammatory response.

TL;DR: Somatic NLRP3 mosaicism underlying MWS is shown, probably representing a shared genetic mechanism in CAPS not restricted to CINCA syndrome, which had serious implications for gaining access to anti-interleukin 1 treatments under legal indication and for genetic counselling.

TL;DR: In this article, a 64-year-old patient who presented with recurrent episodes of urticaria-like rash, fever, conjunctivitis, and oligoarthritis at age 56 years was studied to characterize the genetic cause underlying late-onset but otherwise typical CAPS.

TL;DR: Compared to children, adult patients with AID in this series presented more frequently with non-severe manifestations and none of them developed amyloidosis during follow-up and the final diagnosis of monogenic AID was obtained after a delay of a mean of 12 years.