نتایج جستجو برای: pfapa

تعداد نتایج: 261  

Journal: :The Turkish journal of pediatrics 2013
Aslı Celebi-Tayfur Yelda Bilginer Martina Finetti Marco Gattorno Seza Ozen

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory disorder caused by mutations in the TNFRSF1A gene encoding the 55-kDa receptor for tumor necrosis factor (TNF)-α. It is characterized by recurrent prolonged episodes of fever accompanied by abdominal pain, pleuritis, migratory skin rashes, fasciitis, headache, conjunctivitis, and perior...

2015
Giuseppe Lopalco Luca Cantarini Antonio Vitale Florenzo Iannone Maria Grazia Anelli Laura Andreozzi Giovanni Lapadula Mauro Galeazzi Donato Rigante

A complex web of dynamic relationships between innate and adaptive immunity is now evident for many autoinflammatory and autoimmune disorders, the first deriving from abnormal activation of innate immune system without any conventional danger triggers and the latter from self-/non-self-discrimination loss of tolerance, and systemic inflammation. Due to clinical and pathophysiologic similarities...

2013
S Federici S Ozen I Koné-Paut H Lachmann P Woo L Cantarini G Amaryan A Insalaco J Kuemmerle-Deschner B Neven N Dewarrat Y Uziel D Rigante T Herlin S Martino A Simon S Stojanov H Ozdogan J Frenkel N Ruperto A Martini M Sormani M Hofer M Gattorno

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...

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