[HTML][HTML] Juvenile idiopathic arthritis: from aetiopathogenesis to therapeutic approaches

LN Zaripova, A Midgley, SE Christmas… - Pediatric …, 2021 - Springer
Juvenile idiopathic arthritis (JIA) is the most common paediatric rheumatological disorder
and is classified by subtype according to International League of Associations for …

European consensus-based recommendations for the diagnosis and treatment of Kawasaki disease–the SHARE initiative

N de Graeff, N Groot, S Ozen, D Eleftheriou… - …, 2019 - academic.oup.com
Abstract Objectives The European Single Hub and Access point for paediatric
Rheumatology in Europe initiative aimed to optimize care for children with rheumatic …

Juvenile-onset systemic lupus erythematosus: update on clinical presentation, pathophysiology and treatment options

EMD Smith, H Lythgoe, A Midgley, MW Beresford… - Clinical …, 2019 - Elsevier
Juvenile-onset systemic lupus erythematosus (jSLE) accounts for up to 20% of all SLE
patients. Key differences between juvenile-and adult-onset (aSLE) disease include higher …

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

YJ Crow, DS Chase… - American journal of …, 2015 - Wiley Online Library
Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 …

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte… - Nature …, 2014 - nature.com
The type I interferon system is integral to human antiviral immunity. However, inappropriate
stimulation or defective negative regulation of this system can lead to inflammatory disease …

Toward new classification criteria for juvenile idiopathic arthritis: first steps, pediatric rheumatology international trials organization international consensus

A Martini, A Ravelli, T Avcin, MW Beresford… - The Journal of …, 2019 - jrheum.org
Objective. To revise the current juvenile idiopathic arthritis (JIA) International League of
Associations for Rheumatology (ILAR) classification criteria with an evidence-based …

[HTML][HTML] Adalimumab plus methotrexate for uveitis in juvenile idiopathic arthritis

AV Ramanan, AD Dick, AP Jones… - … England Journal of …, 2017 - Mass Medical Soc
Background Adalimumab, a fully human anti–tumor necrosis factor α monoclonal antibody,
is effective in the treatment of juvenile idiopathic arthritis (JIA). We tested the efficacy of …

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

RKJ Olsen, SE Olpin, BS Andresen, ZH Miedzybrodzka… - Brain, 2007 - academic.oup.com
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid, amino acid
and choline metabolism that can result from defects in two flavoproteins, electron transfer …

Treating juvenile idiopathic arthritis to target: recommendations of an international task force

A Ravelli, A Consolaro, G Horneff, RM Laxer… - Annals of the …, 2018 - ard.bmj.com
Recent therapeutic advances in juvenile idiopathic arthritis (JIA) have made remission an
achievable goal for most patients. Reaching this target leads to improved outcomes. The …

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

TA Briggs, GI Rice, S Daly, J Urquhart, H Gornall… - Nature …, 2011 - nature.com
We studied ten individuals from eight families showing features consistent with the immuno-
osseous dysplasia spondyloenchondrodysplasia. Of particular note was the diverse …