Ivona Aksentijevich

TL;DR: Discovery of a possible shared immune pathway in SLE patients, either with rare or common variants, can provide important clues to better understand this complex disorder, it’s prognosis and can help guide new therapeutic approaches.

TL;DR: A high carrier frequency of the 175-kb DIRA-associated genomic deletion in the Puerto Rican population strongly supports testing infants presenting with unexplained pustulosis in patients from this geographic region.

TL;DR: In this article, the role of the NLRP3 inflammasome in the pathogenesis of APLAID was analyzed by Western blotting and showed that increased intracellular Ca2+ signaling has been associated with NLP3 activation.

TL;DR: PAPA syndrome is characterised by an imbalance of NET formation and degradation that may enhance the half-life of these structures in vivo, promoting inflammation.

TL;DR: Although the spectrum of autoinflammatory diseases has been steadily expanding, a substantial number of patients remain undiagnosed, and next-generation sequencing technologies will be instrumental in finding disease-causing mutations in as yet uncharacterized diseases.