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American journal of medical genetics. Part A · 2015
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 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease‐onset (74 patients; 22.8% of all patients where data were available), or a post‐natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub‐acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non‐syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow‐up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi‐Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon‐stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon‐stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi–Goutières syndrome‐related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials. © 2015 Wiley Periodicals, Inc.
Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).
Infectious disease reports · 2015 · Case Reports
Valente ES, Lazzarin MC, Koech BL, da Rosa RV, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2012 · Case Reports
Terracciano A, Renaldo F, Zanni G, D'Amico A, et al.
Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2012
Infectious disease reports · 2015
We report here the case of a 17-year-old girl from Pelotas, Brazil, with systemic lupus erythematosus and disseminated cryptococcal infection. Prior to diagnosis, she was a chronic user of corticosteroids and other immunosuppressive drugs. Her first symptoms were skin lesions that simulated bacterial cellulitis. Upon suspicion, we performed a biopsy and fungal infection was confirmed. Appropriate therapy was established, and the patient was discharged after 42 days of treatment in complete remission.
American journal of medical genetics. Part A · 2015 · Journal Article
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, et al.