Kamal Ohson

TL;DR: The term deficiency of the interleukin-1-receptor antagonist, or DIRA, is proposed to denote this autosomal recessive autoinflammatory disease caused by mutations affecting IL1RN, resulting in life-threatening systemic inflammation with skin and bone involvement.

TL;DR: In biological-naïve patients with PsA, onset of effect with apremilast was observed at week 2 and continued through week 52, and the safety profile was consistent with previous reports.

TL;DR: A novel heterozygous LMNA mutation is identified in a patient with the general appearance of mandibuloacral dysplasia and progeroid features, and there was no evidence of intracellular accumulation or altered mobility of collagen chains, or altered conversion of procollagen to collagen, suggesting that skin fibroblast-mediated matrix production may not play a significant role in the pathogenesis of this particular laminopathy.

TL;DR: In biologic-naïve psoriatic arthritis patients treated with APR, onset of effect was observed starting at Wk 2 across PsA manifestations, including morning stiffness severity and enthesitis, with sustained improvements through Wk 52.

TL;DR: 2 siblings with a novel homozygous mutation in ITGB2 are described, resulting in an atypical presentation of LAD-I, which may present with unexplained PG and may lack classic symptoms including umbilical cord complications.