Anne Jones

TL;DR: Loss-of-function mutations in CECR1 were associated with a spectrum of vascular and inflammatory phenotypes, ranging from early-onset recurrent stroke to systemic vasculopathy or vasculitis, and were prevented by coinjection with nonmutated (but not with mutated) human C ECR1.

TL;DR: A new disease caused by high-penetrance heterozygous germline mutations in TNFAIP3, which encodes the NF-κB regulatory protein A20, in six unrelated families with early-onset systemic inflammation is described, which resembles Behçet's disease.

TL;DR: Using a genotype-driven approach, this disorder is identified that connects seemingly unrelated adult-onset inflammatory syndromes and is named the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.

TL;DR: The data suggest an environmentally triggered activation of complement and IL-1β/-18 during PFAPA flares, with induction of Th1-chemokines and subsequent retention of activated T cells in peripheral tissues, may be beneficial for treatment ofPFAPA attacks.

TL;DR: It is shown that caspase cleavage of RIPK1 not only inhibits necroptosis but also maintains inflammatory homeostasis throughout life, and a cleavage-resistant Ripk1 D325A mutant mouse strain generated limits TNF-induced cell death and inflammation.