Tumor necrosis factor-associated periodic syndrome in adults
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DOI: 10.1007/s00296-017-3820-4
Abstract: Tumor necrosis factor-associated periodic syndrome is an autoinflammatory disorder classified under hereditary periodic fever syndromes. Mutations in the tumor necrosis factor receptor contribute to tumor necrosis factor-associated periodic syndrome. Decreased shedding of receptors and increased… read more here.
Keywords: periodic syndrome; factor associated; tumor necrosis; associated periodic ... See more keywords
AA Amyloidosis complicating cryopyrin-associated periodic syndrome: a study on 86 cases including 23 French patients and systematic review.
Sign Up to like & getrecommendations! Published in 2022 at "Rheumatology"
DOI: 10.1093/rheumatology/keac145
Abstract: OBJECTIVE Cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable inherited autoinflammatory condition including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurologic cutaneous articular syndrome (CINCA). Our objective was to describe… read more here.
Keywords: cryopyrin associated; periodic syndrome; associated periodic; syndrome ... See more keywords
A case of cryopyrin‐associated periodic fever syndrome due to Q703K mutation in the NLRP3 gene
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DOI: 10.1111/1756-185x.12991
Abstract: Dear Editor, Cryopyrin-associated periodic syndrome (CAPS) is a rare entity (with estimated prevalence of 1/360 000 people) that encompasses a spectrum of three phenotypes of increasing severity, namely, familial cold urticaria (FCUS), Muckle-Wells syndrome (MWS)… read more here.
Keywords: cryopyrin associated; syndrome due; associated periodic; syndrome ... See more keywords
Early‐onset urticaria: a marker of cryopyrin‐associated periodic syndrome
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DOI: 10.1111/ced.13106
Abstract: A 1-year-old boy presented with an asymptomatic fleeting erythematous rash, which had been recurring since 6 h after his birth, and manifested without fever and with a poor response to high-dose antihistamines. The lesions, which… read more here.
Keywords: periodic syndrome; early onset; cryopyrin associated; onset urticaria ... See more keywords
FRI0594 A case of mosaicism in TNF associated periodic syndrome (TRAPS)
Sign Up to like & getrecommendations! Published in 2017 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2017-eular.3485
Abstract: Background Tumor necrosis factor receptor (TNFR)–associated periodic syndrome (TRAPS) is an autosomal-dominant disease caused by gain-of-function mutations in the TNFRSF1A gene, which encodes the 55-kd TNFR type I (TNFRI) protein. Mosaicism has been recently idenitfied… read more here.
Keywords: periodic syndrome; mosaicism; case; syndrome traps ... See more keywords
FRI0610 CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME: A SERIE OF CASES IN A ADULT’S PATIENTS COHORT WITH AUTOINFLAMMATORY SYNDROME IN A THIRD LEVEL HOSPITAL
Sign Up to like & getrecommendations! Published in 2019 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2019-eular.6805
Abstract: Background The Cryopyrin-associated Periodic Syndrome (CAPS) or cryopyrinopathies are part of the spectrum of autoinflammatory diseases. The term cryopyrinopathy encompasses three clinical entities such as: CINCA/NOMID (chronic infantile neurologic, cutaneous and articular/neonatal onset multisystem inflammatory… read more here.
Keywords: diagnosis; nlrp3 gene; associated periodic; gene ... See more keywords
A novel TNFRSF1A mutation associated with TNF-receptor-associated periodic syndrome and its metabolic signature.
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DOI: 10.1136/annrheumdis-2022-eular.1098
Abstract: OBJECTIVE We describe a family with a novel mutation in the TNF Receptor Superfamily Member 1A gene (TNFRSF1A) causing tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with renal AA-amyloidosis. METHODS Case series of affected family… read more here.
Keywords: tnf receptor; associated periodic; treatment; mutation ... See more keywords
Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives
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DOI: 10.3390/ijms21093263
Abstract: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory syndrome characterized by prolonged and recurrent episodes of fever, abdominal and/or chest pain, arthralgia, myalgia, and erythematous rash. TRAPS is associated with heterozygous… read more here.
Keywords: periodic syndrome; syndrome traps; receptor; syndrome ... See more keywords