関: TNF receptor-associated pe- riodic syndrome

WordNet

relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
a rise in the temperature of the body; frequently a symptom of infection (同)febrility, febricity, pyrexia, feverishness
intense nervous anticipation; "in a fever of resentment"
highly excited; "a fevered imagination"

PrepTutorEJDIC

家族の,家族特有の / 違伝的な,血統にあらわれる
〈U〉《しばしばa fever》(身体の異常な)『熱』,発熱 / 〈U〉『熱病』 / 〈U〉〈C〉(…に対する)『興奮』,熱狂《+『for』+『名』》
(比較変化なし)《名詞の前にのみ用いて》熱のある,熱病にかかった / 熱にうかされたような,興奮した / (憎しみなどが)異常に強い
ヒベルニア《Ireland のラテン名》

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/10/20 13:49:35」(JST)

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TNF receptor associated periodic syndrome (also known as TRAPS,^[1]^[2] Tumor necrosis factor receptor associated periodic syndrome^[1] or familial Hibernian fever^[2]) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner. Individuals with TRAPS have episodic symptoms such as recurrent high fevers, rash, abdominal pain, joint/muscle aches and puffy eyes. TRAPS was first described in 1982 in a boy of Scottish-Irish origin. At that time, it was named familial Hibernian fever.^[2]

The main source of TNF (tumor necrosis factor) is cells in the immune system called macrophages which produce it in response to infection and other stimuli. TNF helps activate other immune cells and plays a major role in initiation of inflammation. Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene. The mechanisms by which mutations in TNFR1 lead to the TRAPS phenotype are still under investigation. Impaired shedding of the TNF receptor is one of the possible defects. Most mutations affect the extracellular domain of the receptor, some also the cleavage site.^{[citation needed]}

Several medications have been studied for the treatment of TRAPS including etanercept, infliximab,^[3] tacrolimus^[4] and Il-1Ra (anakinra).^[5] Studies on treatment efficacy in a larger group of patients affected with TRAPS are however lacking to date.

External links

Tumor Necrosis Factor (TNF) Receptor-Associated Periodic Syndrome (TRAPS) - US National Institute of Arthritis and Musculoskeletal and Skin Diseases

References

^ ^a ^b Aksentijevich I, Galon J, Soares M, et al. (August 2001). "The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fevers". Am. J. Hum. Genet. 69 (2): 301–14. doi:10.1086/321976. PMC 1235304. PMID 11443543.
^ ^a ^b ^c "TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder". Retrieved 2010-02-02.
^ Church LD, Churchman SM, Hawkins PN, McDermott MF (Jun 2006). "Hereditary auto-inflammatory disorders and biologics". Springer Semin Immunopathol. 27 (4): 494–508. doi:10.1007/s00281-006-0015-6. PMID 16738958.
^ Ida H, Aramaki T, Arima K, Origuchi T, Kawakami A, Eguchi K (2006). "Successful treatment using tacrolimus (FK506) in a patient with TNF receptor-associated periodic syndrome (TRAPS) complicated by monocytic fasciitis". Rheumatology (Oxford). 45: 1171–3. doi:10.1093/rheumatology/kel178. PMID 16801330.
^ Gattorno M, Pelagatti MA, Meini A, Obici L, et al. (2008). "Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome". Arthritis Rheum. 58: 1516–1520. doi:10.1002/art.23475. PMID 18438813.

UpToDate Contents

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1. 腫瘍壊死因子受容体-1関連周期性発熱症候群（TRAPS） tumor necrosis factor receptor 1 associated periodic syndrome traps
2. 周期性発熱症候群およびその他の自己炎症性疾患：概要 periodic fever syndromes and other autoinflammatory diseases an overview
3. 高IgD症候群：臨床症状および診断 hyperimmunoglobulin d syndrome clinical manifestations and diagnosis
4. アフタ性口内炎、咽頭炎、リンパ節炎（PFAPA症候群）を伴う周期性発熱 periodic fever with aphthous stomatitis pharyngitis and adenitis pfapa syndrome
5. 成人スティル病の臨床症状および診断 clinical manifestations and diagnosis of adult stills disease

English Journal

Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting with refractory chronic arthritis.

Lopalco G1, Rigante D2, Vitale A3, Galeazzi M3, Iannone F1, Cantarini L4.
Clinical and experimental rheumatology.Clin Exp Rheumatol.2015 Nov-Dec;33(6 Suppl 94):S171-2. Epub 2015 May 1.
PMID 25936627

Recommendations for the management of autoinflammatory diseases.

ter Haar NM1, Oswald M2, Jeyaratnam J3, Anton J4, Barron KS5, Brogan PA6, Cantarini L7, Galeotti C8, Grateau G9, Hentgen V10, Hofer M11, Kallinich T12, Kone-Paut I13, Lachmann HJ14, Ozdogan H15, Ozen S16, Russo R17, Simon A18, Uziel Y19, Wouters C20, Feldman BM21, Vastert SJ22, Wulffraat NM22, Benseler SM23, Frenkel J3, Gattorno M24, Kuemmerle-Deschner JB2.
Annals of the rheumatic diseases.Ann Rheum Dis.2015 Sep;74(9):1636-44. doi: 10.1136/annrheumdis-2015-207546. Epub 2015 Jun 24.
: Autoinflammatory diseases are characterised by fever and systemic inflammation, with potentially serious complications. Owing to the rarity of these diseases, evidence-based guidelines are lacking. In 2012, the European project Single Hub and Access point for paediatric Rheumatology in Europe (SHA
PMID 26109736

On-demand treatment with anakinra: a treatment option for selected TRAPS patients.

Grimwood C1, Despert V2, Jeru I3, Hentgen V4.
Rheumatology (Oxford, England).Rheumatology (Oxford).2015 Sep;54(9):1749-51. doi: 10.1093/rheumatology/kev111. Epub 2015 Jun 14.
PMID 26078218

Japanese Journal

Clinical spectrum of familial Hibernian fever : a 14-year follow-up study of the index case and extended family

Mayo Clin Proc 72, 806-817, 1997
NAID 10011470134

★リンクテーブル★

関連記事	「familial」

「familial」

TNF receptor associated periodic syndrome
Classification and external resources
ICD-10	E85.0
OMIM	142680
	[edit on Wikidata]

　　[★]

adj.

家族性の、家系性の、家族の

関: family、family member、household、kindred

[ncbi-1] Aksentijevich I, Galon J, Soares M, et al. (August 2001). "The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fevers". Am. J. Hum. Genet. 69 (2): 301–14. doi:10.1086/321976. PMC 1235304. PMID 11443543.

[springerlink-2] "TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder". Retrieved 2010-02-02.

[3] Church LD, Churchman SM, Hawkins PN, McDermott MF (Jun 2006). "Hereditary auto-inflammatory disorders and biologics". Springer Semin Immunopathol. 27 (4): 494–508. doi:10.1007/s00281-006-0015-6. PMID 16738958.

[4] Ida H, Aramaki T, Arima K, Origuchi T, Kawakami A, Eguchi K (2006). "Successful treatment using tacrolimus (FK506) in a patient with TNF receptor-associated periodic syndrome (TRAPS) complicated by monocytic fasciitis". Rheumatology (Oxford). 45: 1171–3. doi:10.1093/rheumatology/kel178. PMID 16801330.

[5] Gattorno M, Pelagatti MA, Meini A, Obici L, et al. (2008). "Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome". Arthritis Rheum. 58: 1516–1520. doi:10.1002/art.23475. PMID 18438813.

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案内

案内

Familial Hibernian fever