TNF receptor associated periodic syndrome

TNF receptor associated periodic syndrome
Other names: Familial Hibernian fever, Tumor necrosis factor receptor associated periodic syndrome
TNF receptor associated periodic syndrome is acquired via autosomal dominant inheritance
SpecialtyImmunology
SymptomsVertigo, pericarditis[1]
CausesTNFRSF1A gene mutations[2]
Diagnostic methodBlood test, Genetic test[3][4]
TreatmentCorticosteroids, NSAIDS [1]

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]

Symptoms and signs

TNF receptor associated periodic syndrome presents with the following signs and symptoms:[1]

Cause

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]

Mechanism

(Proposed) pathogenic mechanisms in TRAPS[10]
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.[11]

Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene;[12] 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.

Diagnosis

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]

Treatment

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

Several medications have been studied for the treatment of TNF receptor associated periodic syndrome including etanercept, and infliximab,[13]

See also

References

  1. 1 2 3 4 "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.
  2. ↑ Reference, Genetics Home. "TRAPS". Genetics Home Reference. Archived from the original on 3 January 2018. Retrieved 3 January 2018.
  3. 1 2 "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.
  4. 1 2 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 12 September 2023.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ "OMIM Gene Map – Chromosome: 12". omim.org. Archived from the original on 26 October 2023. Retrieved 22 June 2017.
  9. ↑ Cudrici, Cornelia; Deuitch, Natalie; Aksentijevich, Ivona (January 2020). "Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives". International Journal of Molecular Sciences. 21 (9): 3263. doi:10.3390/ijms21093263. ISSN 1422-0067.
  10. ↑ Wajant, H.; Pfizenmaier, K.; Scheurich, P. (2003). "Tumor necrosis factor signaling". Cell Death & Differentiation. 10 (1): 45–65. doi:10.1038/sj.cdd.4401189. ISSN 1350-9047. PMID 12655295.
  11. ↑ "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.
  12. ↑ 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.subscription needed

Further reading

Classification
External resources
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