M. Proietti

ARPC5 deficiency leads to severe early onset systemic inflammation and early mortality

This study identifies ARPC5 deficiency as a cause of severe early-onset systemic inflammation and early mortality in humans and mice.

Integrated Multi-omics Analyses of NFKB1 patients B cells points towards an up regula-tion of NF-κB network inhibitors

This study identifies epigenetic and gene expression changes in B cells from NFKB1 mutation carriers, highlighting dysregulation of NF-κB network inhibitors and potential therapeutic targets.

RIG-I activation primes and trains innate antiviral immune memory

RIG-I activation primes and trains innate immune responses, enhancing non-specific antiviral protection in immune and non-immune cells.

LRBA balances antigen presentation and T-cell responses via autophagy through the binding to PIK3R4 and FYCO1

This study identifies LRBA's role in balancing antigen presentation and T-cell responses by interacting with PIK3R4 and FYCO1 to regulate autophagy.

ADA2 is a lysosomal DNase regulating the type-I interferon response

The paper identifies ADA2 as a lysosomal DNase that regulates the type-I interferon response by degrading cGAS/Sting-activating ligands in DADA2 patients.