Browsing by Author "Menezes, M"
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- Gain-of-Function Mutations in IFIH1 Cause a Spectrum of Human Disease Phenotypes Associated with Upregulated Type I Interferon SignalingPublication . Rice, G; Toro Duany, Y; Jenkinson, E; Forte, G; Anderson, B; Ariaudo, G; Bader-Meunier, B; Baildam, E; Battini, R; Beresford, M; Casarano, M; Chouchane, M; Cimaz, R; Collins, AM; Cordeiro, N; Dale, R; Davidson, J; De Waele, L; Desguerre, I; Faivre, L; Fazzi, E; Isidor, B; Lagae, L; Latchman, A; Lebon, P; Li, C; Livingston, J; Lourenço, C; Mancardi, MM; Masurel-Paulet, A; McInnes, I; Menezes, M; Mignot, C; O’Sullivan, J; Orcesi, S; Picco, P; Riva, E; Robinson, R; Rodriguez, D; Salvatici, E; Scott, C; Szybowska, M; Tolmie, J; Vanderver, A; Vanhulle, C; Vieira, JP; Webb, K; Whitney, R; Williams, S; Wolfe, L; M Zuberi, S; Hur, S; Crow, YThe 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. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemical assays indicate that these mutations confer a gain-of-function - so that mutant IFIH1 binds RNA more avidly, leading to increased baseline and ligand-induced interferon signaling. Our results demonstrate that aberrant sensing of nucleic acids can cause immune upregulation.
- Renal Sarcoidosis: a Rare CasePublication . Menezes, M; Patarata, ESarcoidosis is a multisystemic granulomatous disease with rare renal involvement. We describe a case of a 45-year-old female patient admitted to the hospital with severe acute kidney injury and uveitis. After clinical investigation, sarcoidosis with renal, hepatic and ocular involvement was diagnosed. Renal biopsy revealed acute granulomatous interstitial nephritis and treatment with systemic corticosteroids was started with marked improvement in renal function.
- Takotsubo Syndrome in a Premenopausal PatientPublication . Menezes, M; Marto, D; Marcão, I; Salvado, CTakotsubo syndrome is a rare clinical condition, with a pathophysiology that is not fully understood. Characterised by an acute and usually reversible heart failure, the condition is often preceded by a stressful event. For the diagnosis of Takotsubo syndrome to be possible, the absence of coronary artery disease as a cause is required. We report a case of Takotsubo syndrome in a 47-year-old woman of fertile age. Electrical and echocardiographic presentations were classical in the patient. However, abnormally elevated cardiac biomarkers were registered. The patient showed signs of clinical improvement, with a follow-up angiography excluding coronary artery disease and therefore leading to a diagnosis of Takotsubo syndrome.