Hirotsugu Oda

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: 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.

TL;DR: The second case of HOIP deficiency with novel compound heterozygous mutations in RNF31 and distinct clinical and molecular features is reported, expanding on the clinical spectrum ofHOIP deficiency and molecular signatures associated with LUBAC deficiency.

TL;DR: This review covers several of the prominent recent advances in the field of autoinflammatory diseases, including gene discoveries, the elucidation of new pathogenic mechanisms, and the development of effective targeted therapies.

TL;DR: The LINKED (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects) syndrome was identified in this paper, which is caused by hemizygous variants in OTUD5.