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cryopyrin-associated periodic syndromes/demam
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[Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome].
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Chronic infantile neurologic cutaneous articular (CINCA) syndrome is a serious chronic systemic inflammatory disease that presents at a young age and that is characterized by skin, joint, and central nervous system disease. Skin symptoms are the first to appear, in the form of a longstanding
AA amyloidosis complicating the hereditary periodic fever syndromes.
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OBJECTIVE
AA amyloidosis is a life-threatening complication of the hereditary periodic fever syndromes (HPFS), which are otherwise often compatible with normal life expectancy. This study was undertaken to determine the characteristics, presentation, natural history, and response to treatment in 46
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
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Cryopyrin-associated periodic syndrome are rare autosomal dominantly inherited diseases. They include three overlapping phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem
Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient.
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Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and
Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome.
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Cryopyrin-associated periodic syndrome is a category of autoinflammatory disorders caused by mutations of the NLRP3 gene, with chronic infantile neurologic cutaneous and articular syndrome being the severest clinical phenotype. Various pterins have been reported as mediating immunologic functions in
Recent advances in the molecular pathogenesis of hereditary recurrent fevers.
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OBJECTIVE
To discuss recent developments in the molecular basis of several hereditary recurrent fever syndromes, specifically the cryopyrin-associated periodic syndromes, familial Mediterranean fever and the tumor necrosis factor receptor associated periodic syndrome.
RESULTS
Mutations of CIAS1, the
[Hereditary periodical fever syndromes].
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Autoinflammatory diseases are characterized by attacks of apparently unprovoked inflammation without significant levels of autoantibodies or antigen-specific T-cells. Within the past decade, a number of different genetic causes of fever syndromes have been identified: familial Mediterranean fever
Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss - Case report and literature review.
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Infant-onset bilateral sensorineural hearing loss is a key presenting symptom of the autoinflammatory cryopyrin-associated periodic syndrome. Other symptoms include periodic fever, cold-induced urticaria-like rash, chronic aseptic meningitis, polyarticular arthralgias, and renal AA amyloidosis.
[CAPS: cryopyrin-associated periodic syndrome].
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Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of NLRP3 gene. CAPS consists of three phenotypically similar but distinct syndromes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Among them,
[Fever of unknown cause and autoinflammatory disease].
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Autoinflammatory diseases are often associated with various kinds of febrile episodes such as fever of unknown origin, periodic fever and recurrent fever. Therefore, in the differential diagnosis of fever of unknown cause, autoinflammatory diseases should be considered after exclusion of infections,
Periodic fevers and other autoinflammatory diseases.
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Autoinflammatory diseases represent a relatively new and rapidly evolving group of rare disorders associated with mutations of genes encoding proteins with a key regulatory role in inflammatory response. Gradual discovery of mechanisms that link genetic disorder with its biochemical and
Periodic Fever: a review on clinical, management and guideline for Iranian patients - part I.
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Periodic fever syndromes are a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. The first manifestation of these disorders are present in childhood and adolescence, but infrequently it may be presented in young and middle ages. Genetic base has
Hereditary periodic fever syndromes.
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Hereditary periodic fever syndromes are defined by recurrent attacks of generalised inflammation for which no infectious or auto-immune cause can be identified. For most of these disorders, the molecular basis has recently been elucidated. This has opened the prospect of novel therapeutic
[Hereditary recurrent fever syndromes].
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Four diseases presenting mainly as intermittent bouts of inflammatory symptoms have been clinically and genetically characterized. At the head of this group is familial Mediterranean fever, which affects thousands of patients of Mediterranean ancestry. The other three entities are the tumor necrosis
[Report of a child with neonatal-onset multisystem inflammatory disease and review of the literature].
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OBJECTIVE
Neonatal-onset multisystem inflammatory disease (NOMID) is not widely recognized in China. This study aimed to investigate the diagnosis and treatment of NOMID.
METHODS
To analyze the clinical characteristics and laboratory results including skin biopsy, gene analysis and serum interleukin
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