Zobrazeno 1 - 10
of 770
pro vyhledávání: '"muckle-wells syndrome"'
Publikováno v:
Srpski Arhiv za Celokupno Lekarstvo, Vol 152, Iss 5-6, Pp 289-292 (2024)
Introduction. Adult-onset Still’s disease (AOSD), a systemic inflammatory disorder, often represents a heterogeneous entity and diagnosis requires the exclusion of mimicking disorders, including autoinflammatory diseases. We present a patient who m
Externí odkaz:
https://doaj.org/article/a79f686c66c547909e9c472d45b39854
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-8 (2023)
Abstract Background Cryopyrin-associated periodic syndrome (CAPS), a rare genetic autoimmune disease, is composed of familial cold autoinflammatory syndrome (FCAs), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOM
Externí odkaz:
https://doaj.org/article/67aa0da7ed454bcb931d6e9050f4e207
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Muckle-Wells syndrome (MWS) is an autosomal dominant autoinflammatory disease recognized as the intermediate phenotype of cryopyrin-associated periodic syndrome (CAPS) caused by NLRP3 gene mutation. It often takes a long time before the diagnosis is
Externí odkaz:
https://doaj.org/article/4f323d73eb5648b4ada096436f09dc97
Akademický článek
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Autor:
Jenny Mae Samson, Dinoop Ravindran Menon, Prasanna K. Vaddi, Nazanin Kalani Williams, Joanne Domenico, Zili Zhai, Donald S. Backos, Mayumi Fujita
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Cyropyrin-associated periodic syndromes (CAPS) are clinically distinct syndromes that encompass a phenotypic spectrum yet are caused by alterations in the same gene, NLRP3. Many CAPS cases and other NLRP3-autoinflammatory diseases (NLRP3-AIDs) are di
Externí odkaz:
https://doaj.org/article/3a74afe64861427a9fc59e8e99d8cff3
Autor:
Catharina M. Mulders-Manders, Tim A. Kanters, Paul L. A. van Daele, Esther Hoppenreijs, G. Elizabeth Legger, Jan A. M. van Laar, Anna Simon, Leona Hakkaart-van Roijen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background Cryopyrin-associated periodic syndrome (CAPS) is a rare disease. Knowledge on the quality of life (QoL) and the disease’s societal impact is limited. Canakinumab is used in increasing frequency for the treatment of CAPS. Methods
Externí odkaz:
https://doaj.org/article/06ed263f127049a18feb160b88292e63
Publikováno v:
Journal of Otolaryngology - Head and Neck Surgery, Vol 47, Iss 1, Pp 1-6 (2018)
Abstract Background Muckle-Wells syndrome (MWS) is a rare auto-inflammatory disease characterized by the presence of recurrent urticaria, deafness and amyloidosis. Progressive sensorineural hearing loss (SNHL) is reported to occur in up to 85% of pat
Externí odkaz:
https://doaj.org/article/6d80904149f44329be641cff9c7cf0c5
Publikováno v:
Life, Vol 11, Iss 12, p 1433 (2021)
The aim of this study is to describe bilateral optic disc swelling in three consecutive patients with Blau syndrome or cryopyrin-associated periodic syndrome at a single institution. Case 1 was a 30-year-old woman receiving 25 mg etanercept twice wee
Externí odkaz:
https://doaj.org/article/be6532a4ab064fb594e4fbddad662fef
Autor:
Tran TA
Publikováno v:
Open Access Rheumatology: Research and Reviews, Vol Volume 9, Pp 123-129 (2017)
Tu-Anh Tran Department of Pediatrics, Nîmes University Hospital, INSERM U1183, Montpellier-Nîmes University, Nîmes, France Abstract: Muckle–Wells syndrome (MWS) is a rare autoinflammatory disorder. It is due to NLRP3 gene mutations, responsible
Externí odkaz:
https://doaj.org/article/3942a066745b4e3da9ebab51db64d3eb
Autor:
Elena M. Kamaltynova, Iulia P. Chasovskikh, Zinaida A. Maevskaia, Svetlana O. Salugina, Evgenii S. Fedorov, Inna E. Gerbek
Publikováno v:
Вопросы современной педиатрии, Vol 16, Iss 2, Pp 180-183 (2017)
Cryopyrin associated periodic syndromes (CAPS) are rare monogenic autoinflammatory diseases from the group of hereditary periodic syndromes caused by a regulation defect of inflammatory cytokines, in particular interleukin 1β. They include familial
Externí odkaz:
https://doaj.org/article/3d9938f239ce46d09ffeba30d839b1d0