“…The clinical picture of the attacks in the MEFV gene variant patients was more compatible with PFAPA than FMF. In the literature, the clinical symptoms in patients with MEFV gene variants were exacerbated in periodic fever syndrome, and in autoimmune diseases such as Behcet's disease and rheumatoid arthritis . Although no association was detected between the severity of symptoms and the presence of MEFV gene mutations in the present study, colchicine prophylaxis was more effective in reducing the frequency of episodes in PFAPA patients with MEFV gene variant.…”
This study has involved the largest number of PFAPA syndrome patients in the literature. It is particularly important to assess and to demonstrate the high rate of response to colchicine prophylaxis in PFAPA syndrome patients, especially those with MEFV variant. On blood screening, neutrophilia associated with monocytosis and low procalcitonin could contribute to diagnosis.
“…The clinical picture of the attacks in the MEFV gene variant patients was more compatible with PFAPA than FMF. In the literature, the clinical symptoms in patients with MEFV gene variants were exacerbated in periodic fever syndrome, and in autoimmune diseases such as Behcet's disease and rheumatoid arthritis . Although no association was detected between the severity of symptoms and the presence of MEFV gene mutations in the present study, colchicine prophylaxis was more effective in reducing the frequency of episodes in PFAPA patients with MEFV gene variant.…”
This study has involved the largest number of PFAPA syndrome patients in the literature. It is particularly important to assess and to demonstrate the high rate of response to colchicine prophylaxis in PFAPA syndrome patients, especially those with MEFV variant. On blood screening, neutrophilia associated with monocytosis and low procalcitonin could contribute to diagnosis.
“…Talaat et al (2014[27]) showed that BD patients with active disease had significantly higher levels of IL-6 compared to patients in remission. In addition, many other genes indicated an association with BD (Chen et al, 2012[8]; Yazici et al, 2012[31]; Hou et al, 2013[14]; Kirino et al, 2013[18]; Tasliyurt et al, 2013[28]; Tizaoui et al, 2014[29]; Xiang et al, 2014[30]). However, none of these genes are fully linked to BD.…”
“…6 Although some advances have been made regarding genetic susceptibility and immunology, 7 we still know little about the role of infection in the pathogenesis of this disease. One interesting fact is the association between BD and Mediterranean fever gene mutations, which seem to be increased in patients with BD.…”
Section: Behçet's Pathogenesis and Infectionmentioning
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