Periodic syndrome
Interleukin-1 antagonists in the treatment of autoinflammatory syndromes, including cryopyrin-associated periodic syndrome
... Cryopyrin-associated periodic syndrome (CAPS) include a group of rare autoinflammatory disorders, the spectrum of which ranges from the mildest form, ie, familial cold autoinflammatory syndrome to ...
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Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome
... 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 ...
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First Report of Circulating MicroRNAs in Tumour Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS)
... associated periodic syndrome (TRAPS) is the most common autosomal dominant autoinflam- matory disorder and is caused by mutations in the TNFRSF1A gene (12p13) encoding the 55-kD receptor for tumor necrosis ...
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Interleukin-1β inhibitors for the treatment of cryopyrin-associated periodic syndrome
... Cryopyrin-associated periodic syndrome (CAPS) is a spectrum of inherited autoinflam- matory syndromes, which includes familial cold autoinflammatory syndrome (FCAS, formerly termed familial ...
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Successful Management of Cryopyrin-Associated Periodic Syndrome With Canakinumab in Infancy
... 5. Aksentijevich I, Nowak M, Mallah M, et al. De novo CIAS1 mutations, cytokine activa- tion, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem in fl ammatory disease (NOMID): a new member ...
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Retrospective case series describing the efficacy, safety and cost-effectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrin-associated periodic syndrome
... Fig. 1 Cryopyrin associated periodic syndrome disease activity score pre-and post canakinumab. The difference between CAPS DAS scores before and after canakinumab treatment was highly significant (P < ...
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Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS)
... meningeal syndrome, sensorineural deafness (confirmed by audiograms), optic nerve involvement (based on fundu- scopic examination), seizures, mental retardation (con- firmed by psychometrics tests when ...
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Critical appraisal of canakinumab in the treatment of adults and children with cryopyrin-associated periodic syndrome (CAPS)
... autoinflammatory syndrome, Muckle-Wells syndrome and neonatal-onset multisystem inflammatory disease, are characterized by urticaria-like rash, fever, central nervous system inflammation, an arthropathy and ...
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Differentiating PFAPA Syndrome From Monogenic Periodic Fevers
... PFAPA syndrome criteria; 43 carried diagnostic mutations (mevalonate kinase deficiency: n ⫽ 33; tumor necrosis factor receptor-associated periodic syndrome: n ⫽ 3; familial Mediterranean fever: n ⫽ ...
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Developments in the scientific and clinical understanding of autoinflammatory disorders
... ciated periodic syndrome (TRAPS), the hyper-IgD and periodic fever syndrome (HIDS), and the cryopyrin-associated periodic syndrome (CAPS) and acquired diseases of adult- hood, ...
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Rack, Anita Lena (2009): Das Periodisches Fieber, Aphthöse Stomatitis, Pharyngitis und Adenitis (PFAPA)-Syndrom: Klinische und molekulargenetische Untersuchungen bei 71 Kindern zur Abgrenzung von hereditären periodischen Fiebersyndromen. Dissertation, LMU München: Medizinische Fakultät
... Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with se[r] ...
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Muckle–Wells syndrome: clinical perspectives
... Muckle–Wells syndrome (MWS) is one of the three clinical forms of the cryopyrin- associated periodic syndrome (CAPS), a rare hereditary periodic fever syndrome due to genetic mutations ...
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Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand
... uremic syndrome; CAPS: cryopyrin‑associated periodic syndrome; CGD: chronic granulomatous disease; EDA‑ID: ectodermal dysplasia and immunodeficiency; FMF: familial mediterranean fever; HAE: ...
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Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature
... Introduction: Mutations in the NLRP3 gene are associated with the dominantly inherited cryopyrin-associated periodic syndrome (CAPS). The significance of the V198M variant is unclear; it has been reported ...
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Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey
... cryopyrin-associated periodic syndrome (CAPS) (21), familial Mediterranean fever (14) and mevalonate kinase deficiency ...s syndrome, gout, CAPS and ...
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Munchausen by proxy syndrome mimicking systemic autoinflammatory disease: case report and review of the literature
... associated periodic syndromes (CAPS), mevalonate kinase (MVK) deficiency and tumor necrosis factor recep- tor associated periodic syndrome ...
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Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study
... Cryopyrin-associated periodic syndrome (CAPS) is a group of rare autoinflammatory diseases, and of these, chronic infantile neurologic, cutaneous, and articular/neonatal-onset multisystem inflammatory ...
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Falling into TRAPS – receptor misfolding in the TNF receptor 1 associated periodic fever syndrome
... receptor-associated periodic syndrome (TRAPS) is a dominantly inherited disease caused by missense mutations in the TNF receptor 1 (TNFR1) ...from periodic bouts of severe abdominal pain, localised ...
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Autoinflammatory syndromes: diagnosis and management
... Hyper-IgD Syndrome; TRAPS: Tumor necrosis factor Receprtor associated Autoinflammatory Periodic Syndrome; CAPS: Cryopirin Associated Periodic Syndromes; PAPA: Pyogenic sterile Arthritis ...
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Treatment of Apnea and Excessive Periodic Breathing in the Full-Term Infant
... have been identified in near miss infants and in some siblings of sudden infant death syndrome victims.’2’#{176} We are now reporting an increased in- cidence of periodic breathing in fu[r] ...
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