B. Grimbacher

BTK and MMP9 regulate NLRP3 inflammasome-dependent cytokine and NET responses in primary neutrophils.

This paper shows that BTK and MMP-9 negatively regulate NLRP3 inflammasome activity in neutrophils, affecting cytokine and NET release.

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.

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.

BTK operates a phospho-tyrosine switch to regulate NLRP3 inflammasome activity

The paper shows BTK modulates NLRP3 inflammasome activity through phosphorylation of tyrosine residues, affecting localization, oligomerization, and IL-1β release.

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.

Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

This study investigates AID's role in DNA methylation defects in HIGM2 B cells, finding that AID is not directly involved in active demethylation but TET enzymes are, and that methylation defects are linked to premature BCR activation.