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Kawasaki disease (KD) is an acute self-limiting inflammatory disorder, associated with vasculitis, affecting predominantly medium-sized arteries, particularly the coronary arteries. In developed countries KD is the commonest cause of acquired heart disease in childhood. The aetiology of KD remains unknown, and it is currently believed that one or more as(More)
OBJECTIVE To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international registry. METHODS A web-based registry collected retrospective data on patients with TNFRSF1A sequence variants and inflammatory(More)
Results One hundred and fourteen patients (53 male, 61 female) with two MVK mutations were included in this study. The median age of onset was 0.5 years. The median follow up period was 11.5 years. The majority of the patients were Caucasian (90%). Ninety-six patients harboured at least one V377I mutation, fourteen of them had a homozygous V377I mutation.(More)
Takayasu Arteritis (TA) is a rare, debilitating large vessel vasculitis occurring in patients of all ages, including infants, but the disease most commonly presents in the third decade. Diagnosis is often delayed and consequently TA is associated with significant morbidity and mortality. Accurate methods of monitoring disease activity or damage are lacking(More)
OBJECTIVES To describe the clinical, laboratory, histopathological presentations and final diagnoses for children presenting to a tertiary paediatric rheumatology service with an inflammatory lesion of the orbit. METHODS This was a retrospective descriptive case series of children with an inflammatory lesion of the orbit presenting to a single paediatric(More)
Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) G Montealegre, A Reinhardt, P Brogan, Y Berkun, A Zlotogorski, D Brown, P Chira, L Gao, J Dare, S Schalm, R Merino, D Chapelle, H Kim, S Judd, M O’Brien, A Almeida De Jesus, Y Kim, B Kost, Y(More)
Introduction TNF receptor associated periodic syndrome (TRAPS) is an autosomal dominant disease caused by gain-of-function mutations in the TNF superfamily receptor 1A (TNFRSF1A) gene encoding 55 kDa TNF receptor type I (TNFR1). TRAPS is characterized by episodes of fever accompanied by severe abdominal pain, arthralgia, myalgia, rash, chest pain, enlarged(More)
Chronic allograft vasculopathy (CAV) limits the lifespan of pediatric heart transplant recipients. We investigated blood markers of inflammation, endothelial dysfunction, and damage to both the native and transplanted vasculature in children after heart transplantation. Serum samples were taken from pediatric heart transplant recipients for markers of(More)
OBJECTIVE Kawasaki disease (KD) is an acute vasculitis that causes coronary artery aneurysms (CAA) in young children. Previous studies have emphasised poor long-term outcomes for those with severe CAA. Little is known about the fate of those without CAA or patients with regressed CAA. We aimed to study long-term cardiovascular status after KD by examining(More)
Introduction Haemophagocytic lymphohistiocytosis (HLH) is a severe condition in which there is extreme uncontrolled inflammation, and may progress rapidly to multi-organ failure and death. HLH may be genetic (primary HLH), or secondary to infection or autoimmune/ autoinflammatory conditions; if the latter, it is also referred to as macrophage activation(More)