TNF receptor associated periodic syndrome is autosomal dominant, and about 70 mutations of the TNFRSF1A gene have been linked to this condition.[8] Its cytogenetic location is at 12p13.31.[9]
Mechanismedit
Macrophage
The main source of TNF (tumor necrosis factor) are 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.[10]
Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene;[11] the mechanisms by which mutations in TNFR1 lead to the TRAPS phenotype are still unknown. 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.[medical citation needed]
Diagnosisedit
The diagnosis of TRAPS may show an increased IgD level in a possibly affected individual, other methods to ascertain a definite finding is via the following:[3][4]
In terms of treatment for TNF receptor associated periodic syndrome, corticosteroids can be administered for the reduction of the severity of this condition, NSAIDS may be used for fever.[1]
Researchedit
Several medications have been studied for the treatment of TNF receptor associated periodic syndrome including etanercept, and infliximab,[12]
^ abcd. rarediseases.info.nih.gov. Archived from the original on 24 January 2017. Retrieved 22 June 2017.
^Reference, Genetics Home. "TRAPS". Genetics Home Reference. from the original on 3 January 2018. Retrieved 3 January 2018.
^ ab"TNF receptor-associated periodic fever syndrome (TRAPS) – Conditions – GTR – NCBI". www.ncbi.nlm.nih.gov. from the original on 6 January 2018. Retrieved 22 June 2017.
^ abFirestein, Gary S.; Budd, Ralph; Gabriel, Sherine E.; McInnes, Iain B.; O'Dell, James R. (21 June 2016). Kelley and Firestein's Textbook of Rheumatology E-Book. Elsevier Health Sciences. p. 1676. ISBN9780323414944. from the original on 26 October 2023. Retrieved 22 June 2017.
^Liaison, Janet Austin, Office of Communications and Public (21 April 2017). "Autoinflammatory Diseases". www.niams.nih.gov. from the original on 27 June 2017. Retrieved 22 June 2017.{{cite web}}: CS1 maint: multiple names: authors list (link)
^Delaleu J, Deshayes S, Rodrigues F, Savey L, Rivière E, Silva NM, Aouba A, Amselem S, Rabant M, Grateau G, Giurgea I, Georgin-Lavialle S (December 2021). "Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review". Rheumatology (Oxford). 60 (12): 5775–5784. doi:10.1093/rheumatology/keab252. PMID 33715002.
^RESERVED, INSERM US14 – ALL RIGHTS. "Orphanet: Tumor necrosis factor receptor 1 associated periodic syndrome". www.orpha.net. from the original on 28 May 2018. Retrieved 22 June 2017.{{cite web}}: CS1 maint: numeric names: authors list (link)
^"OMIM Gene Map – Chromosome: 12". omim.org. from the original on 26 October 2023. Retrieved 22 June 2017.
^"TNFRSF1A TNF receptor superfamily member 1A [Homo sapiens (human)] – Gene – NCBI". www.ncbi.nlm.nih.gov. from the original on 23 January 2019. Retrieved 22 June 2017.
Kimberley, Fiona C; Lobito, Adrian A; Siegel, Richard M; Screaton, Gavin R (2007). "Falling into TRAPS – receptor misfolding in the TNF receptor 1-associated periodic fever syndrome". Arthritis Research & Therapy. 9 (4): 217. doi:10.1186/ar2197. ISSN 1478-6354. PMC2206363. PMID 17666110.
receptor, associated, periodic, syndrome, traps, redirects, here, other, uses, trap, traps, periodic, fever, syndrome, associated, with, mutations, receptor, molecule, tumor, necrosis, factor, that, inheritable, autosomal, dominant, manner, individuals, with, . TRAPS redirects here For other uses see Trap TNF receptor associated periodic syndrome TRAPS 5 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 5 6 TNF receptor associated periodic syndromeOther namesFamilial Hibernian fever Tumor necrosis factor receptor associated periodic syndromeSpecialtyImmunologySymptomsVertigo pericarditis 1 CausesMutations in the TNFRSF1A gene 2 Diagnostic methodBlood test Genetic test 3 4 TreatmentCorticosteroids NSAIDS 1 Contents 1 Symptoms and signs 2 Cause 3 Mechanism 4 Diagnosis 5 Treatment 5 1 Research 6 See also 7 References 8 Further reading 9 External linksSymptoms and signs editTNF receptor associated periodic syndrome presents with the following signs and symptoms 1 Episodic fever Elevated erythrocyte sedimentation rate Pericarditis Splenomegaly Uveitis Vertigo AA amyloidosis 7 Cause editTNF receptor associated periodic syndrome is autosomal dominant and about 70 mutations of the TNFRSF1A gene have been linked to this condition 8 Its cytogenetic location is at 12p13 31 9 Mechanism edit nbsp Macrophage The main source of TNF tumor necrosis factor are 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 10 Individuals with TRAPS have a mutation in the tumor necrosis factor receptor 1 TNFR1 gene 11 the mechanisms by which mutations in TNFR1 lead to the TRAPS phenotype are still unknown 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 medical citation needed Diagnosis editThe diagnosis of TRAPS may show an increased IgD level in a possibly affected individual other methods to ascertain a definite finding is via the following 3 4 Blood test Genetic test Clinical evaluationTreatment edit nbsp Corticosteroid In terms of treatment for TNF receptor associated periodic syndrome corticosteroids can be administered for the reduction of the severity of this condition NSAIDS may be used for fever 1 Research edit Several medications have been studied for the treatment of TNF receptor associated periodic syndrome including etanercept and infliximab 12 See also editList of cutaneous conditions TNFRSF1AReferences edit a b c d Tumor necrosis factor receptor associated periodic syndrome Genetic and Rare Diseases Information Center GARD an NCATS Program rarediseases info nih gov Archived from the original on 24 January 2017 Retrieved 22 June 2017 Reference Genetics Home TRAPS Genetics Home Reference Archived from the original on 3 January 2018 Retrieved 3 January 2018 a b TNF receptor associated periodic fever syndrome TRAPS Conditions GTR NCBI www ncbi nlm nih gov Archived from the original on 6 January 2018 Retrieved 22 June 2017 a b Firestein Gary S Budd Ralph Gabriel Sherine E McInnes Iain B O Dell James R 21 June 2016 Kelley and Firestein s Textbook of Rheumatology E Book Elsevier Health Sciences p 1676 ISBN 9780323414944 Archived from the original on 26 October 2023 Retrieved 22 June 2017 a b Rezaei Nima November 2006 TNF receptor associated periodic syndrome TRAPS an autosomal dominant multisystem disorder Clinical Rheumatology 25 6 773 777 doi 10 1007 s10067 005 0198 6 PMID 16447098 S2CID 41808394 Liaison Janet Austin Office of Communications and Public 21 April 2017 Autoinflammatory Diseases www niams nih gov Archived from the original on 27 June 2017 Retrieved 22 June 2017 a href Template Cite web html title Template Cite web cite web a CS1 maint multiple names authors list link Delaleu J Deshayes S Rodrigues F Savey L Riviere E Silva NM Aouba A Amselem S Rabant M Grateau G Giurgea I Georgin Lavialle S December 2021 Tumour necrosis factor receptor 1 associated periodic syndrome TRAPS related AA amyloidosis a national case series and systematic review Rheumatology Oxford 60 12 5775 5784 doi 10 1093 rheumatology keab252 PMID 33715002 RESERVED INSERM US14 ALL RIGHTS Orphanet Tumor necrosis factor receptor 1 associated periodic syndrome www orpha net Archived from the original on 28 May 2018 Retrieved 22 June 2017 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link OMIM Gene Map Chromosome 12 omim org Archived from the original on 26 October 2023 Retrieved 22 June 2017 Wajant H Pfizenmaier K Scheurich P 2003 Tumor necrosis factor signaling Cell Death amp Differentiation 10 1 45 65 doi 10 1038 sj cdd 4401189 ISSN 1350 9047 PMID 12655295 TNFRSF1A TNF receptor superfamily member 1A Homo sapiens human Gene NCBI www ncbi nlm nih gov Archived from the original on 23 January 2019 Retrieved 22 June 2017 Church LD Churchman SM Hawkins PN McDermott MF June 2006 Hereditary auto inflammatory disorders and biologics Springer Semin Immunopathol 27 4 494 508 doi 10 1007 s00281 006 0015 6 PMID 16738958 S2CID 16876568 Further reading editKimberley Fiona C Lobito Adrian A Siegel Richard M Screaton Gavin R 2007 Falling into TRAPS receptor misfolding in the TNF receptor 1 associated periodic fever syndrome Arthritis Research amp Therapy 9 4 217 doi 10 1186 ar2197 ISSN 1478 6354 PMC 2206363 PMID 17666110 External links editPubMed nbsp Scholia has a topic profile for TNF receptor associated periodic syndrome Retrieved from https en wikipedia org w index php title TNF receptor associated periodic syndrome amp oldid 1221435271, wikipedia, wiki, book, books, library,
