Classification criteria for autoinflammatory recurrent fevers
نویسندگان
چکیده
منابع مشابه
OR13-004 – Evidence-based clinical classification criteria for periodic fevers
Methods All FMF, TRAPS, MKD and CAPS patients enrolled in the Eurofever registry until March 2013 were evaluated. For each disease gold standards were considered according to the following criteria: i) clinical validation by centers and disease-principal investigator, ii) confirmative molecular analysis (2 mutations for MEFV with at least one mutation in exon 10, 2 mutations of MVK gene, 1 muta...
متن کاملPReS13-SPK-1588: Recurrent fevers
Fevers are common in childhood, usually due to infections. Some children however experience recurrent episodes of seemingly unprovoked fevers. These so-called periodic fever syndromes are rare diseases. Clinically they are characterized by generalized inflammation and different combinations of localized tissue inflammation. Skin and joints are often affected in these patients and the long-stand...
متن کاملPerspective validation of the eurofever classification criteria for monogenic periodic fevers
Methods The provisional Eurofever classification criteria (best accuracy cut-off) were applied to patients with periodic fevers enrolled in the registry after March 2013. The following disease were analyzed: FMF, MKD, TRAPS, CAPS, PFAPA and undefined periodic fevers. Patients were divided in three subgroups: i) group A: inherited periodic fevers with genetic confirmation, ii) group B: inherited...
متن کاملPReS-FINAL-2194: Evidence-based clinical classification criteria for periodic fevers
Methods All FMF, TRAPS, MKD and CAPS patients enrolled in the Eurofever registry until March 2013 were evaluated. For each disease gold standards were considered according to the following criteria: i) clinical validation by centers and disease-principal investigator, ii) confirmative molecular analysis (2 mutations for MEFV with at least one mutation in exon 10, 2 mutations of MVK gene, 1 muta...
متن کاملGuidelines for the genetic diagnosis of hereditary recurrent fevers
Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for these diseases has initiated genetic diagnostics in many countries around the world, including t...
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ژورنال
عنوان ژورنال: Annals of the Rheumatic Diseases
سال: 2019
ISSN: 0003-4967,1468-2060
DOI: 10.1136/annrheumdis-2019-215048