cryopyrin-associated periodic syndromes/sakit kepala

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A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy.

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The clinical features, the underlying CIAS1 mutation, and the results of cytokine analyses are described for a 10-year-old German boy with neonatal-onset multisystem inflammatory disease, whose condition improved with age. Disease onset occurred at 26 months of age with predominantly cutaneous

[Cryopyrin-associated periodic syndrome].

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The cryopyrin-associated periodic syndrome is a very rare disease. It is estimated that there are 1-2 cases out of 1 million inhabitants in the USA and 1/360,000 in France. However, many patients are diagnosed very late or not at all. Therefore the real prevalence is likely to be higher. CAPS

Secondary Intracranial Hypertension in Pediatric Patients With Cryopyrin-Associated Periodic Syndrome

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Background: Cryopyrin-associated periodic syndrome is characterized by periodic fever, rash, and joint pain. Papilledema rarely occurs. We present our series of patients with cryopyrin-associated periodic syndrome who clinically met the

Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome.

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Cryopyrin-associated periodic syndrome (CAPS) is a group of rare hereditary autoinflammatory diseases caused by mutations of the NLRP3 gene, and leads to excessive production of the proinflammatory cytokine, interleukin-lβ. A 35-year-old male presented with recurrent symptoms of urticarial-like

Recognising and understanding cryopyrin-associated periodic syndrome in adults.

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Cryopyrin-associated periodic syndrome (CAPS) is a group of rare hereditary autoinflammatory diseases characterised by recurrent flares of mild to severe systemic inflammation and fever. CAPS is the umbrella term for a spectrum of individual conditions, namely familial cold autoinflammatory syndrome

[Cryopyrin-associated periodic syndromes].

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Cryopyrin-associated periodic syndromes (CAPS) are linked to one single gene mutations, however they are associated with 3 syndromes, which are, from the mildest to the most severe phenotype familial cold urticaria, Muckle-Wells syndrome and chronic, infantile, neurologic, cutaneous, articular

Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians.

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The cryopyrin-associated periodic syndrome (CAPS) is a very rare disease. It is estimated that there are 1-2 cases for every 1 million people in the US and 1 in every 360,000 in France. However, many patients are diagnosed very late or not at all, meaning the real prevalence is likely to be higher.

Neurologic manifestations of the cryopyrin-associated periodic syndrome.

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BACKGROUND The cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable hereditary autoinflammatory condition. Without treatment, one third of patients develop amyloidosis with consequent renal failure and death. CAPS encompasses 3 conditions: familial cold autoinflammatory syndrome,

Central nervous system involvement in pediatric rheumatic diseases: current concepts in treatment.

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Central nervous system (CNS) manifestations are not rare in pediatric rheumatic diseases. They may be a relatively common feature of the disease, as in systemic lupus erythematosus (SLE) and Behçet's disease. Direct CNS involvement of a systemic rheumatic disease, primary CNS vasculitis, indirect

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