Caspase recruitment domain 15 mutations and rheumatic diseases.
Purpose Of Review: The purpose of this article is to review the foundational work and current developments on a group of rheumatic disorders associated with mutations in the caspase recruitment domain 15/nucleotide oligomerization domain 2 gene.Recent Findings: To date, there are at least 10 arthrit...
| Published in: | Current Opinion in Rheumatology Vol. 17; no. 5; pp. 579 - 586 |
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| Main Authors: | , |
| Format: | review Journal Article |
| Published: |
Lippincott Williams & Wilkins
Sep2005
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| Online Access: | View this record in EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=138711006&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 138711006 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10408711 IR0 jtl: Current Opinion in Rheumatology issn: 10408711 maglogo: N pubinfo: dt: Sep2005 vid: 17 iid: 5 pid: 433 pub: Lippincott Williams & Wilkins place: Baltimore, Maryland artinfo: ui: 138711006 138711006 NLM16093837 138711006 10.1097/01.bor.0000169362.61443.52 NLM16093837 138711006 ppf: 579 ppct: 7 formats: tig: atl: Caspase recruitment domain 15 mutations and rheumatic diseases. aug: au: Rose, Carlos D Martin, Tammy M affil: Pediatric Rheumatology, duPont Children's Hospital, Philadelphia, Pennsylvania, USA sug: subj: Peptide Hydrolases Rheumatic Diseases Mutation Proteins Arthritis Impact Measurement Scales Scales ab: Purpose Of Review: The purpose of this article is to review the foundational work and current developments on a group of rheumatic disorders associated with mutations in the caspase recruitment domain 15/nucleotide oligomerization domain 2 gene.Recent Findings: To date, there are at least 10 arthritic conditions for which specific genetic mutations have been demonstrated. They include familial Mediterranean fever; tumor necrosis factor receptor associated periodic syndrome; hyper immunoglobulin D syndrome; neonatal onset multisystemic inflammatory disease; pyogenic arthritis pyoderma gangrenosum and acne; Muckle-Wells syndrome; familial cold autoinflammatory syndrome; immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome; Crohn's disease; and familial and sporadic sarcoid granulomatous arthritis. This review focuses on recent progress in the last two diseases and the caspase recruitment domain 15 genetic defects with which they are associated. Up to 50% of patients with familial granulomatous arthritis (Blau's syndrome), 90% of those with sporadic granulomatous arthritis (early-onset sarcoidosis), and 40% of individuals with Crohn's disease have documented mutations in the caspase recruitment domain 15 gene.Summary: Although histologically, Crohn's disease and familial and sporadic sarcoid granulomatous arthritis are distinct from rheumatoid arthritis because of the defining presence (albeit in not all cases) of non-caseating granulomata in the synovial and intestinal tissues, respectively, they still represent a promising model of both chronic synovitis and uveitis. In addition, once the actual mechanism is discovered by which defects of the caspase recruitment domain 15 gene product lead to chronic arthritis, it may uncover unsuspected biologic targets for therapeutics. pubtype: Academic Journal doctype: review Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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