遗传性自身炎症综合征 - Suppr

The hereditary autoinflammatory syndromes.

作者信息

Chitkara Puja, Stojanov Silvia, Kastner Daniel L

机构信息

National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Center Drive, Bethesda, MD, USA.

出版信息

Pediatr Infect Dis J. 2007 Apr;26(4):353-4. doi: 10.1097/01.inf.0000258777.86510.da.

DOI:10.1097/01.inf.0000258777.86510.da

PMID:17414402

Abstract

摘要

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引用本文的文献

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PLoS One. 2013 Oct 3;8(10):e75457. doi: 10.1371/journal.pone.0075457. eCollection 2013.

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Orphanet J Rare Dis. 2012 May 24;7 Suppl 1(Suppl 1):S5. doi: 10.1186/1750-1172-7-S1-S5.

The NLRP3 inflammasome is active but not essential in endotoxin-induced uveitis.

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Expression of CD64 on polymorphonuclear neutrophils in patients with familial Mediterranean fever.

Clin Exp Immunol. 2011 Jun;164(3):365-72. doi: 10.1111/j.1365-2249.2011.04380.x. Epub 2011 Mar 25.

TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.

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相似文献

The hereditary autoinflammatory syndromes.

Pediatr Infect Dis J. 2007 Apr;26(4):353-4. doi: 10.1097/01.inf.0000258777.86510.da.

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.

Eur J Hum Genet. 2005 Apr;13(4):510-2. doi: 10.1038/sj.ejhg.5201352.

[Autoinflammatory syndromes].

Med Clin (Barc). 2011 Jan;136 Suppl 1:3-9. doi: 10.1016/S0025-7753(11)70002-1.

Autoinflammatory syndromes with a dermatological perspective.

J Dermatol. 2007 Sep;34(9):601-18. doi: 10.1111/j.1346-8138.2007.00342.x.

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant.

J Clin Rheumatol. 2008 Dec;14(6):342-5. doi: 10.1097/RHU.0b013e31817d109b.

Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.

Rheumatology (Oxford). 2006 Mar;45(3):269-73. doi: 10.1093/rheumatology/kei138. Epub 2005 Oct 18.

Autoinflammatory diseases: the hereditary periodic fever syndromes.

Acta Biomed. 2004 Aug;75(2):92-9.

[Hereditary recurrent fever syndromes].

Bull Acad Natl Med. 2005 Jun;189(6):1235-46; discussion 1246-8.

[Periodic fever syndromes].

Z Rheumatol. 2006 Nov;65(7):595-8, 600-3. doi: 10.1007/s00393-006-0117-5.

Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever.

Curr Opin Rheumatol. 2006 Jan;18(1):108-17. doi: 10.1097/01.bor.0000198006.65697.5b.

引用本文的文献

Histologic Patterns and Clues to Autoinflammatory Diseases in Children: What a Cutaneous Biopsy Can Tell Us.

Dermatopathology (Basel). 2021 Jun 8;8(2):202-220. doi: 10.3390/dermatopathology8020026.

Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory disease.

Curr Rheumatol Rep. 2015 Jul;17(7):45. doi: 10.1007/s11926-015-0520-5.

Treatment advances in systemic juvenile idiopathic arthritis.

F1000Prime Rep. 2014 Apr 1;6:21. doi: 10.12703/P6-21. eCollection 2014.

Cytokine profile in a cohort of healthy blood donors carrying polymorphisms in genes encoding the NLRP3 inflammasome.

PLoS One. 2013 Oct 3;8(10):e75457. doi: 10.1371/journal.pone.0075457. eCollection 2013.

The role of SH3BP2 in the pathophysiology of cherubism.

Orphanet J Rare Dis. 2012 May 24;7 Suppl 1(Suppl 1):S5. doi: 10.1186/1750-1172-7-S1-S5.

The NLRP3 inflammasome is active but not essential in endotoxin-induced uveitis.

Inflamm Res. 2012 Mar;61(3):225-31. doi: 10.1007/s00011-011-0404-8. Epub 2011 Nov 26.

The NLRP3 inflammasome in health and disease: the good, the bad and the ugly.

Clin Exp Immunol. 2011 Oct;166(1):1-15. doi: 10.1111/j.1365-2249.2011.04440.x. Epub 2011 Jul 15.

Expression of CD64 on polymorphonuclear neutrophils in patients with familial Mediterranean fever.

Clin Exp Immunol. 2011 Jun;164(3):365-72. doi: 10.1111/j.1365-2249.2011.04380.x. Epub 2011 Mar 25.

TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.

Eur J Pediatr. 2008 Dec;167(12):1421-5. doi: 10.1007/s00431-008-0685-2. Epub 2008 Apr 12.

The hereditary autoinflammatory syndromes.

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