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2002 1
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2008 5
2011 2
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2019 4
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32 results

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Page 1
NLRP12-associated systemic autoinflammatory diseases in children.
Wang HF. Wang HF. Pediatr Rheumatol Online J. 2022 Feb 5;20(1):9. doi: 10.1186/s12969-022-00669-8. Pediatr Rheumatol Online J. 2022. PMID: 35123508 Free PMC article. Review.
Nucleotide-binding leucine-rich repeat-containing receptor 12-related autoinflammatory disease (NLRP12-AID) is a newly identified SAID and a rare autosomal dominant disorder caused by mutations in the NLRP12 gene, which is also known as familial cold autoinflamma …
Nucleotide-binding leucine-rich repeat-containing receptor 12-related autoinflammatory disease (NLRP12-AID) is a newly identified SAID and a …
Urticarial vasculitis and urticarial autoinflammatory syndromes.
Marzano AV, Tavecchio S, Venturini M, Sala R, Calzavara-Pinton P, Gattorno M. Marzano AV, et al. G Ital Dermatol Venereol. 2015 Feb;150(1):41-50. Epub 2015 Jan 14. G Ital Dermatol Venereol. 2015. PMID: 25586657 Review.
Histology shows a classic pattern of leukocytoclastic vasculitis, with possible presence of upper dermal edema. CAPS are classified as three distinct entities: familial cold autoinflammatory syndrome, Muckle-Wells Syndrome and chronic infantile neurolo …
Histology shows a classic pattern of leukocytoclastic vasculitis, with possible presence of upper dermal edema. CAPS are classified as three …
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Almeida de Jesus A, Goldbach-Mansky R. Almeida de Jesus A, et al. Clin Immunol. 2013 Jun;147(3):155-74. doi: 10.1016/j.clim.2013.03.016. Epub 2013 Apr 9. Clin Immunol. 2013. PMID: 23711932 Free PMC article. Review.
The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D a …
The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familia …
Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.
Chen S, Li Z, Hu X, Zhang H, Chen W, Xu Q, Tang L, Ge H, Zhen Q, Yong L, Yu Y, Cao L, Zhang R, Hao Y, Shi J, Sun L. Chen S, et al. Clin Rheumatol. 2022 Nov;41(11):3461-3470. doi: 10.1007/s10067-022-06292-y. Epub 2022 Jul 19. Clin Rheumatol. 2022. PMID: 35852776
Familial cold autoinflammatory syndrome (FCAS) is the mildest subtype of cryopyrin-associated periodic syndrome (CAPS) and is a rare inherited systemic autoinflammatory disease (SAID). ...
Familial cold autoinflammatory syndrome (FCAS) is the mildest subtype of cryopyrin-associated periodic syndrome …
Autoinflammatory syndromes with a dermatological perspective.
Kanazawa N, Furukawa F. Kanazawa N, et al. J Dermatol. 2007 Sep;34(9):601-18. doi: 10.1111/j.1346-8138.2007.00342.x. J Dermatol. 2007. PMID: 17727363 Review.
Similar but distinct periodic fever syndromes accompanied by urticarial rash, familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome, have all been reportedly associated with CIAS1 …
Similar but distinct periodic fever syndromes accompanied by urticarial rash, familial cold autoinflammatory syndrom …
Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.
Miyamoto T, Izawa K, Masui S, Yamazaki A, Yamasaki Y, Matsubayashi T, Shiraki M, Ohnishi H, Yasumura J, Kawabe T, Miyamae T, Matsubara T, Arakawa N, Ishige T, Takizawa T, Shimbo A, Shimizu M, Kimura N, Maeda Y, Maruyama Y, Shigemura T, Furuta J, Sato S, Tanaka H, Izumikawa M, Yamamura M, Hasegawa T, Kaneko H, Nakagishi Y, Nakano N, Iida Y, Nakamura T, Wakiguchi H, Hoshina T, Kawai T, Murakami K, Akizuki S, Morinobu A, Ohmura K, Eguchi K, Sonoda M, Ishimura M, Furuno K, Kashiwado M, Mori M, Kawahata K, Hayama K, Shimoyama K, Sasaki N, Ito T, Umebayashi H, Omori T, Nakamichi S, Dohmoto T, Hasegawa Y, Kawashima H, Watanabe S, Taguchi Y, Nakaseko H, Iwata N, Kohno H, Ando T, Ito Y, Kataoka Y, Saeki T, Kaneko U, Murase A, Hattori S, Nozawa T, Nishimura K, Nakano R, Watanabe M, Yashiro M, Nakamura T, Komai T, Kato K, Honda Y, Hiejima E, Yonezawa A, Bessho K, Okada S, Ohara O, Takita J, Yasumi T, Nishikomori R; Japan CAPS Working Group. Miyamoto T, et al. Arthritis Rheumatol. 2024 Jun;76(6):949-962. doi: 10.1002/art.42808. Epub 2024 Mar 7. Arthritis Rheumatol. 2024. PMID: 38268504
Six patients (5.9% of all patients) died, with four of the deaths caused by CAPS-associated symptoms. Notably, 73.7% of patients (100%, 79.6%, and 44.4% of familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurologic …
Six patients (5.9% of all patients) died, with four of the deaths caused by CAPS-associated symptoms. Notably, 73.7% of patients (100%, 79.6 …
Cryopyrin-associated periodic syndromes: diagnosis and management.
Miyamae T. Miyamae T. Paediatr Drugs. 2012 Apr 1;14(2):109-17. doi: 10.2165/11595040-000000000-00000. Paediatr Drugs. 2012. PMID: 22335455 Review.
CAPS include three variants, ranging in order of increasing severity from familial cold autoinflammatory syndrome, previously termed familial cold urticaria, through Muckle-Wells syndrome, to chronic infantile neurologic cutaneous articular syndrome, a …
CAPS include three variants, ranging in order of increasing severity from familial cold autoinflammatory syndrome …
Cryopyrinopathies: update on pathogenesis and treatment.
Neven B, Prieur AM, Quartier dit Maire P. Neven B, et al. Nat Clin Pract Rheumatol. 2008 Sep;4(9):481-9. doi: 10.1038/ncprheum0874. Epub 2008 Jul 29. Nat Clin Pract Rheumatol. 2008. PMID: 18665151 Review.
Cryopyrinopathies are a group of rare autoinflammatory diseases that includes familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurologic cutaneous articular syndrome (also termed neonatal-onset multisystemic inflamm …
Cryopyrinopathies are a group of rare autoinflammatory diseases that includes familial cold autoinflammatory syndrom …
Diagnosis and management of autoinflammatory diseases in childhood.
Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, Martini A. Gattorno M, et al. J Clin Immunol. 2008 May;28 Suppl 1:S73-83. doi: 10.1007/s10875-008-9178-3. Epub 2008 Mar 27. J Clin Immunol. 2008. PMID: 18368292 Review.
Cryopyrinopathies are a group of conditions associated to mutations of the gene Cryopyrin that are responsible for a spectrum of diseases (familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and …
Cryopyrinopathies are a group of conditions associated to mutations of the gene Cryopyrin that are responsible for a spectrum of diseases ( …
The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations.
Hull KM, Shoham N, Chae JJ, Aksentijevich I, Kastner DL. Hull KM, et al. Curr Opin Rheumatol. 2003 Jan;15(1):61-9. doi: 10.1097/00002281-200301000-00011. Curr Opin Rheumatol. 2003. PMID: 12496512 Review.
Mutations in another PYRIN domain protein, termed cryopyrin, are responsible for three clinically defined illnesses, Muckle-Wells syndrome, familial cold autoinflammatory syndrome, and NOMID/CINCA. A related protein encoded by the gene is responsible f …
Mutations in another PYRIN domain protein, termed cryopyrin, are responsible for three clinically defined illnesses, Muckle-Wells syndrome, …
32 results