[HTML][HTML] Activated STING in a vascular and pulmonary syndrome

Y Liu, AA Jesus, B Marrero, D Yang… - … England Journal of …, 2014 - Mass Medical Soc
Background The study of autoinflammatory diseases has uncovered mechanisms
underlying cytokine dysregulation and inflammation. Methods We analyzed the DNA of an …

[HTML][HTML] An autoinflammatory disease with deficiency of the interleukin-1–receptor antagonist

I Aksentijevich, SL Masters, PJ Ferguson… - … England Journal of …, 2009 - Mass Medical Soc
Background Autoinflammatory diseases manifest inflammation without evidence of infection,
high-titer autoantibodies, or autoreactive T cells. We report a disorder caused by mutations …

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

SW Canna, AA de Jesus, S Gouni, SR Brooks… - Nature …, 2014 - nature.com
Inflammasomes are innate immune sensors that respond to pathogen-and damage-
associated signals with caspase-1 activation, interleukin (IL)-1β and IL-18 secretion, and …

[HTML][HTML] JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

GAM Sanchez, A Reinhardt, S Ramsey… - The Journal of …, 2018 - Am Soc Clin Investig
BACKGROUND. Monogenic IFN–mediated autoinflammatory diseases present in infancy
with systemic inflammation, an IFN response gene signature, inflammatory organ damage …

[HTML][HTML] Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

A Brehm, Y Liu, A Sheikh, B Marrero… - The Journal of …, 2015 - Am Soc Clin Investig
Autosomal recessive mutations in proteasome subunit β 8 (PSMB8), which encodes the
inducible proteasome subunit β5i, cause the immune-dysregulatory disease chronic atypical …

Sustained response and prevention of damage progression in patients with neonatal‐onset multisystem inflammatory disease treated with anakinra: a cohort study to …

CH Sibley, N Plass, J Snow, EA Wiggs… - Arthritis & …, 2012 - Wiley Online Library
Objective Blocking interleukin‐1 with anakinra in patients with the autoinflammatory
syndrome neonatal‐onset multisystem inflammatory disease (NOMID) reduces systemic and …

Brief Report: Anakinra Use During Pregnancy in Patients With Cryopyrin‐Associated Periodic Syndromes

Z Chang, CY Spong, AA Jesus, MA Davis, N Plass… - 2014 - Wiley Online Library
Objective To describe the pregnancy course and outcome and the use of anakinra, a
recombinant selective interleukin‐1 receptor blocker, during pregnancy in patients with …

A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease

CH Sibley, A Chioato, S Felix, L Colin… - Annals of the …, 2015 - ard.bmj.com
Objective To study efficacy and safety of escalating doses of canakinumab, a fully human
anti-IL-1β monoclonal antibody in the severe cryopyrin-associated periodic syndrome …

Cerebrospinal fluid cytokines correlate with aseptic meningitis and blood–brain barrier function in neonatal‐onset multisystem inflammatory disease: central nervous …

J Rodriguez‐Smith, YC Lin, WL Tsai… - Arthritis & …, 2017 - Wiley Online Library
Objective To evaluate proinflammatory cytokines and leukocyte subpopulations in the
cerebrospinal fluid (CSF) and blood of patients with neonatal‐onset multisystem …

[HTML][HTML] Rilonacept maintains long-term inflammatory remission in patients with deficiency of the IL-1 receptor antagonist

M Garg, AA de Jesus, D Chapelle, P Dancey… - JCI insight, 2017 - ncbi.nlm.nih.gov
BACKGROUND. Deficiency of IL-1 receptor antagonist (DIRA) is a rare autoinflammatory
disease that presents with life-threatening systemic inflammation, aseptic multifocal …