سندرم‌های دوره‌ای وابسته به کرایوپایرین

سندرم‌های دوره‌ای وابسته به کرایوپایرین
سندرم‌های دوره‌ای وابسته به کرایوپایرین
	این بیماری‌ها توارث اتوزومال غالب دارند.
تخصص	پوست‌شناسی، ژن‌شناسی پزشکی
طبقه‌بندی و منابع بیرونی
آی‌سی‌دی-۱۰	E85.0
سمپ	D056587
اورفانت	۲۰۸۶۵۰
	[ویرایش در ویکی‌داده]

سندرم‌های دوره‌ای وابسته به کرایوپایرین (انگلیسی: Cryopyrin-associated periodic syndrome) یا به اختصار «CAPS» گروهی از بیماری‌های خودایمنی ناهمگون و نادر است که مشخصه‌شان، التهاب فراگیر وابسته به اینترلوکین ۱ بتا و علائم مختلف پوستی، عصبی، مفصلی و جلدی است.

این بیماری‌ها طیفی از سه سندرم بالینی را در بر می‌گیرد که مشخصهٔ کمابیش مشابهی دارند و شامل «سندرم خودایمنی سرد خانوادگی»، «سندرم ماکل-ولس» و «بیماری التهابی مولتی‌سیستمیک با شروع در نوزادی» هستند که هر سه، در اثر جهش ژنی یکسانی ایجاد می‌شوند.

داروهایی نظیر کاناکینومب،^[۱]^[۲] ریلوناسپت،^[۳]^[۳] آناکینرا،^[۴]^[۵]^[۶]^[۷] تالیدومید^[۸] و توسیلیزومب^[۹] در درمان این گروه از بیماری‌ها بکار رفته‌است.

منابع ویرایش

↑ Lachmann, Helen J.; Kone-Paut, Isabelle; Kuemmerle-Deschner, Jasmin B.; Leslie, Kieron S.; Hachulla, Eric; Quartier, Pierre; Gitton, Xavier; Widmer, Albert; Patel, Neha (2009-06-04). "Use of canakinumab in the cryopyrin-associated periodic syndrome". The New England Journal of Medicine. 360 (23): 2416–2425. doi:10.1056/NEJMoa0810787. ISSN 1533-4406. PMID 19494217.
↑ Sibley, Cailin H.; Chioato, Andrea; Felix, Sandra; Colin, Laurence; Chakraborty, Abhijit; Plass, Nikki; Rodriguez-Smith, Jackeline; Brewer, Carmen; King, Kelly (2015-09-01). "A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease". Annals of the Rheumatic Diseases. 74 (9): 1714–1719. doi:10.1136/annrheumdis-2013-204877. ISSN 1468-2060. PMC 4258169. PMID 24906637.
↑ ^۳٫۰ ^۳٫۱ Hoffman, Hal M.; Throne, Martin L.; Amar, N. J.; Sebai, Mohamed; Kivitz, Alan J.; Kavanaugh, Arthur; Weinstein, Steven P.; Belomestnov, Pavel; Yancopoulos, George D. (2008-08-01). "Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies". Arthritis and Rheumatism. 58 (8): 2443–2452. doi:10.1002/art.23687. ISSN 0004-3591. PMID 18668535.
↑ Ross, J. Barrie; Finlayson, Laura A.; Klotz, P. Jennifer; Langley, Richard G.; Gaudet, Roxanne; Thompson, Kara; Churchman, Sarah M.; McDermott, Michael F.; Hawkins, Philip N. (2017-02-01). "Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up". Journal of Cutaneous Medicine and Surgery. 12 (1): 8–16. ISSN 1203-4754. PMID 18258152.
↑ Hoffman, Hal M.; Rosengren, Sanna; Boyle, David L.; Cho, Jae Y.; Nayar, Jyothi; Mueller, James L.; Anderson, Justin P.; Wanderer, Alan A.; Firestein, Gary S. (2016-11-13). "Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist". Lancet. 364 (9447): 1779–1785. doi:10.1016/S0140-6736(04)17401-1. ISSN 1474-547X. PMC 4321997. PMID 15541451.
↑ Goldbach-Mansky, Raphaela; Dailey, Natalie J.; Canna, Scott W.; Gelabert, Ana; Jones, Janet; Rubin, Benjamin I.; Kim, H. Jeffrey; Brewer, Carmen; Zalewski, Christopher (2006-08-10). "Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition". The New England Journal of Medicine. 355 (6): 581–592. doi:10.1056/NEJMoa055137. ISSN 1533-4406. PMC 4178954. PMID 16899778.
↑ Seitz, M.; Kamgang, R. K.; Simon, H. U.; Villiger, P. M. (2005-12-01). "Therapeutic interleukin (IL) 1 blockade normalises increased IL1 beta and decreased tumour necrosis factor alpha and IL10 production in blood mononuclear cells of a patient with CINCA syndrome". Annals of the Rheumatic Diseases. 64 (12): 1802–1803. doi:10.1136/ard.2005.036749. ISSN 0003-4967. PMC 1755296. PMID 16284353.
↑ Kallinich, T.; Hoffman, H. M.; Roth, J.; Keitzer, R. (2016-06-01). "The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide". Scandinavian Journal of Rheumatology. 34 (3): 246–249. ISSN 0300-9742. PMID 16134734.
↑ Matsubara, Tomoyo; Hasegawa, Masanari; Shiraishi, Masahiro; Hoffman, Hal M.; Ichiyama, Takashi; Tanaka, Takeo; Ueda, Haruo; Ishihara, Tokuhiro; Furukawa, Susumu (2006-07-01). "A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents". Arthritis and Rheumatism. 54 (7): 2314–2320. doi:10.1002/art.21965. ISSN 0004-3591. PMID 16802372.

مشارکت‌کنندگان ویکی‌پدیا. «Cryopyrin-associated periodic syndrome». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۵ اکتبر ۲۰۱۷.

[1] Lachmann, Helen J.; Kone-Paut, Isabelle; Kuemmerle-Deschner, Jasmin B.; Leslie, Kieron S.; Hachulla, Eric; Quartier, Pierre; Gitton, Xavier; Widmer, Albert; Patel, Neha (2009-06-04). "Use of canakinumab in the cryopyrin-associated periodic syndrome". The New England Journal of Medicine. 360 (23): 2416–2425. doi:10.1056/NEJMoa0810787. ISSN 1533-4406. PMID 19494217.

[2] Sibley, Cailin H.; Chioato, Andrea; Felix, Sandra; Colin, Laurence; Chakraborty, Abhijit; Plass, Nikki; Rodriguez-Smith, Jackeline; Brewer, Carmen; King, Kelly (2015-09-01). "A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease". Annals of the Rheumatic Diseases. 74 (9): 1714–1719. doi:10.1136/annrheumdis-2013-204877. ISSN 1468-2060. PMC 4258169. PMID 24906637.

[Hoffman_2443–2452-3] ۳٫۰ ^۳٫۱ Hoffman, Hal M.; Throne, Martin L.; Amar, N. J.; Sebai, Mohamed; Kivitz, Alan J.; Kavanaugh, Arthur; Weinstein, Steven P.; Belomestnov, Pavel; Yancopoulos, George D. (2008-08-01). "Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies". Arthritis and Rheumatism. 58 (8): 2443–2452. doi:10.1002/art.23687. ISSN 0004-3591. PMID 18668535.

[4] Ross, J. Barrie; Finlayson, Laura A.; Klotz, P. Jennifer; Langley, Richard G.; Gaudet, Roxanne; Thompson, Kara; Churchman, Sarah M.; McDermott, Michael F.; Hawkins, Philip N. (2017-02-01). "Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up". Journal of Cutaneous Medicine and Surgery. 12 (1): 8–16. ISSN 1203-4754. PMID 18258152.

[5] Hoffman, Hal M.; Rosengren, Sanna; Boyle, David L.; Cho, Jae Y.; Nayar, Jyothi; Mueller, James L.; Anderson, Justin P.; Wanderer, Alan A.; Firestein, Gary S. (2016-11-13). "Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist". Lancet. 364 (9447): 1779–1785. doi:10.1016/S0140-6736(04)17401-1. ISSN 1474-547X. PMC 4321997. PMID 15541451.

[6] Goldbach-Mansky, Raphaela; Dailey, Natalie J.; Canna, Scott W.; Gelabert, Ana; Jones, Janet; Rubin, Benjamin I.; Kim, H. Jeffrey; Brewer, Carmen; Zalewski, Christopher (2006-08-10). "Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition". The New England Journal of Medicine. 355 (6): 581–592. doi:10.1056/NEJMoa055137. ISSN 1533-4406. PMC 4178954. PMID 16899778.

[7] Seitz, M.; Kamgang, R. K.; Simon, H. U.; Villiger, P. M. (2005-12-01). "Therapeutic interleukin (IL) 1 blockade normalises increased IL1 beta and decreased tumour necrosis factor alpha and IL10 production in blood mononuclear cells of a patient with CINCA syndrome". Annals of the Rheumatic Diseases. 64 (12): 1802–1803. doi:10.1136/ard.2005.036749. ISSN 0003-4967. PMC 1755296. PMID 16284353.

[8] Kallinich, T.; Hoffman, H. M.; Roth, J.; Keitzer, R. (2016-06-01). "The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide". Scandinavian Journal of Rheumatology. 34 (3): 246–249. ISSN 0300-9742. PMID 16134734.

[9] Matsubara, Tomoyo; Hasegawa, Masanari; Shiraishi, Masahiro; Hoffman, Hal M.; Ichiyama, Takashi; Tanaka, Takeo; Ueda, Haruo; Ishihara, Tokuhiro; Furukawa, Susumu (2006-07-01). "A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents". Arthritis and Rheumatism. 54 (7): 2314–2320. doi:10.1002/art.21965. ISSN 0004-3591. PMID 16802372.

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