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》
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/10/28 11:02:18」(JST)
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (March 2009) |
| TNF receptor associated periodic syndrome |
| Classification and external resources |
| ICD-10 |
E85.0 |
| OMIM |
142680 |
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.
See also
- List of cutaneous conditions
- TNFRSF1A
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.
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Cell surface receptor deficiencies
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|
G protein-coupled receptor
(including hormone) |
| Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty)
- FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
- GnRHR (Gonadotropin-releasing hormone insensitivity)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
|
|
| Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
|
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| Class C |
- CASR (Familial hypocalciuric hypercalcemia)
|
|
| Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
|
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Enzyme-linked receptor
(including
growth factor) |
| RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
- FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
|
|
| STPK |
- AMHR2 (Persistent Müllerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys–Dietz syndrome)
|
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| GC |
- GUCY2D (Leber's congenital amaurosis 1)
|
|
|
| JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
|
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| TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
|
|
| Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
|
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| Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal-cell carcinoma syndrome)
- BMPR1A (BMPR1A juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
|
|
- See also
- cell surface receptors
|
Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
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| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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UpToDate Contents
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English Journal
- A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
- Piram M, Frenkel J, Gattorno M, Ozen S, Lachmann HJ, Goldbach-Mansky R, Hentgen V, Neven B, Stojanovic KS, Simon A, Kuemmerle-Deschner J, Hoffman H, Stojanov S, Duquesne A, Pillet P, Martini A, Pouchot J, Kone-Paut I; EUROFEVER and EUROTRAPS networks.SourceDepartment of Pediatrics and Pediatric Rheumatology, National Reference Center for Auto-Inflammatory Disorders, Bicetre University Hospital, Paris XI University, Le Kremlin-Bicetre, France.
- Annals of the rheumatic diseases.2011 Feb;70(2):309-14. Epub 2010 Nov 15.
- PMID 21081528
- Functional consequences of disease-associated mutations in TNFR1 elucidated by transcriptome analysis.
- Rebelo SL, Radford PM, Bainbridge SE, Todd I, Tighe PJ.SourceInstitute of Infection, Immunity & Inflammation, and School of Molecular Medical Sciences, University of Nottingham, Immunology, A Floor West Block, Queen's Medical Centre, Nottingham, NG7 2UH, UK. susie.rebelo@nottingham.ac.uk
- Advances in experimental medicine and biology.2011;691:461-70.
- PMID 21153350
Japanese Journal
- Clinical spectrum of familial Hibernian fever : a 14-year follow-up study of the index case and extended family
Related Links
- Hibernian fever, familial symptoms, causes, diagnosis, and treatment information for Hibernian fever, familial (TRAPS (TNF-receptor-associated periodic syndrome)) with alternative diagnoses, full-text book chapters, misdiagnosis ...
- Tests Available Rest of the Periodic fever panel TNFRSF1A Select Exons Sequencing Periodic Fever Syndromes Panel (7 genes) Rest of the Periodic fever panel FORMS AND DOCUMENTS Test Info Sheet Test Requisition TEST ...
Related Pictures
★リンクテーブル★
[★]
- 関
- family、family member、household、kindred
[★]
- 関
- TNF receptor-associated pe- riodic syndrome