Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

…, HL Leavis, A van Royen-Kerkof, C Sibley… - Nature …, 2016 - nature.com
Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity 1
. Herein we describe a new disease caused by high-penetrance heterozygous germline …

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 organ‐…

Retinal vasculitis

JT Rosenbaum, CH Sibley, P Lin - Current opinion in …, 2016 - journals.lww.com
Retinal vasculitis is an important entity for rheumatologists to understand. Retinal vasculitis
associated with Behçet's disease responds to monoclonal antibodies that neutralize TNF, but …

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, neonatal…

[HTML][HTML] Treatment of mucocutaneous manifestations in Behçet's disease with anakinra: a pilot open-label study

…, E Joyal, R Goldbach-Mansky, CH Sibley - Arthritis research & …, 2017 - Springer
Background The effect of IL-1 blocking therapy on mucocutaneous manifestations of Behçet’s
disease is incompletely understood. Methods Six patients with Behçet’s disease and …

Behçet syndrome manifestations and activity in the United States versus Turkey—a cross-sectional cohort comparison

C Sibley, Y Yazici, K Tascilar, N Khan, Y Bata… - The Journal of …, 2014 - jrheum.org
Objective. To compare clinical manifestations and activity of Behçet syndrome (BS) in the
United States versus Turkey using validated outcome measures. Methods. Consecutive …

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

…, D Chapelle, Y Huang, CH Sibley… - 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 inflammatory …

Subglottic stenosis and endobronchial disease in granulomatosis with polyangiitis

KA Quinn, A Gelbard, C Sibley, A Sirajuddin… - …, 2019 - academic.oup.com
Objectives To describe tracheobronchial disease in patients with granulomatosis with polyangiitis
(GPA) and evaluate the utility of dynamic expiratory CT to detect large-airway disease. …

Cold hard facts of cryoglobulinemia: updates on clinical features and treatment advances

…, N Mehraban, CH Sibley - Rheumatic Disease …, 2015 - rheumatic.theclinics.com
Cryoglobulins consist of proteins (primarily immunoglobulins) that precipitate at temperatures
less than 37 C and resolubilize when blood is heated to more than 37 C. They develop …

Orbital pseudotumor can be a localized form of granulomatosis with polyangiitis as revealed by gene expression profiling

…, HE Grossniklaus, CA Harrington, CH Sibley… - … and molecular pathology, 2015 - Elsevier
Biopsies and ANCA testing for limited forms of granulomatosis with polyangiitis (GPA) are
frequently non-diagnostic. We characterized gene expression in GPA and other causes of …