NLRP12- associated autoinflammatory disorder: case report
نویسندگان
چکیده
منابع مشابه
NLRP12- associated autoinflammatory disorder: case report
Methods E.M., 4 years old, comes to our observation because of the presence of recurrent episodes of fever lasting 4-5 days,since about one year, every 15 days, associated with diarrhea, urticaria-like rush decreasing spontaneously, mainly on the back and lower limbs. From November 2012 to April, the patient presented daily fever (Tmax 40°C) associated with worsening rush, arthralgia and arthri...
متن کاملRole of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy.
OBJECTIVE A new class of autoinflammatory syndromes called NLRP12-associated disorders (NLRP12AD) has been associated with mutations in NLRP12. Conflicting data on the putative role of NLRP12 in interleukin-1β (IL-1β) signaling have been found in in vitro analyses. This prospective study was undertaken to assess the secretion of IL-1β and 3 IL-1β-induced cytokines (IL-1 receptor antagonist [IL-...
متن کاملRole of IL-1b in NLRP12-associated autoinflammatory disorders and resistance to anti-IL-1 therapy
Results Spontaneous secretion of IL-1b by patients’ PBMC was found to be dramatically increased (80 to 175-fold) compared to controls. Consistently, anakinra initially led to a marked clinical improvement and to a rapid near-normalization of IL-1b secretion. However, a progressive clinical relapse occurred secondarily, associated with an increase in TNF-a secretion, persistent elevated levels o...
متن کاملAssociation between celiac sprue and cryopyrin associated autoinflammatory disorders: a case report
Cryopyrin-associated diseases may be characterized by rashes, fever, and sensorineural deafness, while celiac disease may present with symptoms of malabsorption and fatigue. Arthritis is seen in both conditions. We report a young child with histologically diagnosed celiac disease and a cryopyrinopathy.
متن کاملCIAS1-associated autoinflammatory syndrome first diagnosed at age 48 years: a case report
Cryopyrin-associated periodic syndromes are a group of autoinflammatory syndromes caused by mutations of the CIAS1gene (currently named NLRP3), and are characterized by periodic attacks of an urticaria-like rash, fever, headache, conjunctivitis and arthralgia. Often patients present in early childhood, but the great diversity of manifestations and the difficulties in genetic analyses make the d...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2014
ISSN: 1546-0096
DOI: 10.1186/1546-0096-12-s1-p262