Results The median age of onset was 12 months, with a maleto-female ratio of 1,6:1. The length of fever attacks ranged between 2-8 days, and symptom-free intervals between 10-45 days. The most common associated symptoms were pharyngitis (100%), abdominal pain (45,1%), aphthous stomatitis (43,7%), and cervical lymphadenitis (32,4%). During fever flares, the leukocyte count and acute phase reacta...

Results In our cohort (148 males and 120 females) fever began at 26.2 + 24 months of age. 8% of the patients had an onset after the fifth year of life, but all other Thomas criteria were met. A family history was present in 39.6% of patients. Mean duration of PFAPA episodes was 4 + 1.6 days, and a mean interval between episodes 27.9 + 11 days. Most common symptoms with fever were pharyngitis (9...

Introduction PFAPA syndrome (periodic fever, aphtous stomatitis, pharyngitis, adenitis) is an autoinflammatory disease, for which no genetic marker has been identified yet, and its etiology remains unknown. However, the clinical and biochemical similarities to other autoinflammatory conditions, including Familial Mediterranean Fever (FMF), suggest that a genetic impairment might constitute the ...

Autoinflammatory diseases are caused by inflammasome dysregulation leading to overproduction of proinflammatory cytokines and a pathological delay in the inflammation switching off. The progress of cellular biology has partially clarified pathogenic mechanisms behind monogenic autoinflammatory diseases, whereas little is known about the polygenic ones. Although the genetic susceptibility of per...

Results Fifteen patients (8 male, 7 female) from Eastern / Central European population with median age at disease onset 4 years (range 1.5-17) and median age at MEFV testing 8 years (range 3-17) were included; 9/15 patients with mutations in exon 10 (M694V, K695R, A744S, S730F), 3/15 with mutations in exon 3 (P369S/R408E, P369S/ R408Q) and 3/15 with mutations in exon 2 (E148Q, A289E). One patie...