Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome

MedGen UID:: 854914
•Concept ID:: C3889136
•: Disease or Syndrome

Synonyms:

Familial Hibernian Fever; TNF Receptor 1-Associated Periodic Syndrome

Definition

An autoinflammatory disease caused by mutations in the TNFRSF1A gene coding for tumor necrosis factor receptor 1 (TNFR1). This results in attacks of fever, rash, peritoneal, pleural, or pericardial serositis and/or synovial inflammation along with increased acute phase reactants. Complications may include amyloidosis. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVTumor Necrosis Factor Receptor 1-Associated Periodic Syndrome

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Syndromic disease
      - Autoinflammatory syndrome
        Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome

Recent clinical studies

Diagnosis

A taste of periodic fever syndromes.

Koyfman A, Lovallo E, Hazen MM, Chiang VW
Pediatr Emerg Care 2013 Jul;29(7):842-8; quiz 849-51. doi: 10.1097/PEC.0b013e318298df8b. PMID: 23823268

"Trap" the diagnosis: a man with recurrent episodes of febrile peritonitis, not just familial Mediterranean fever.

Arad U, Niv E, Caspi D, Elkayam O
Isr Med Assoc J 2012 Apr;14(4):229-31. PMID: 22675839

Tumor necrosis factor receptor 1-associated periodic syndrome without fever: cytokine profile before and during etanercept treatment.

Morbach H, Richl P, Stojanov S, Lohse P, Girschick HJ
Rheumatol Int 2009 Dec;30(2):207-12. doi: 10.1007/s00296-009-0937-0. PMID: 19381634

Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases.

Kümpfel T, Hoffmann LA, Pellkofer H, Pöllmann W, Feneberg W, Hohlfeld R, Lohse P
Neurology 2008 Nov 25;71(22):1812-20. doi: 10.1212/01.wnl.0000335930.18776.47. PMID: 19029521

See all (4)

Therapy

A taste of periodic fever syndromes.

Koyfman A, Lovallo E, Hazen MM, Chiang VW
Pediatr Emerg Care 2013 Jul;29(7):842-8; quiz 849-51. doi: 10.1097/PEC.0b013e318298df8b. PMID: 23823268

"Trap" the diagnosis: a man with recurrent episodes of febrile peritonitis, not just familial Mediterranean fever.

Arad U, Niv E, Caspi D, Elkayam O
Isr Med Assoc J 2012 Apr;14(4):229-31. PMID: 22675839

Tumor necrosis factor receptor 1-associated periodic syndrome without fever: cytokine profile before and during etanercept treatment.

Morbach H, Richl P, Stojanov S, Lohse P, Girschick HJ
Rheumatol Int 2009 Dec;30(2):207-12. doi: 10.1007/s00296-009-0937-0. PMID: 19381634

Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases.

Kümpfel T, Hoffmann LA, Pellkofer H, Pöllmann W, Feneberg W, Hohlfeld R, Lohse P
Neurology 2008 Nov 25;71(22):1812-20. doi: 10.1212/01.wnl.0000335930.18776.47. PMID: 19029521

See all (4)

Clinical prediction guides

TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis.

Blaschek A, V Kries R, Lohse P, Huss K, Vill K, Belohradsky BH, Heinen F, Müller-Felber W, Kümpfel T
Eur J Paediatr Neurol 2018 Jan;22(1):72-81. Epub 2017 Sep 1 doi: 10.1016/j.ejpn.2017.08.007. PMID: 28927886

Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases.

Kümpfel T, Hoffmann LA, Pellkofer H, Pöllmann W, Feneberg W, Hohlfeld R, Lohse P
Neurology 2008 Nov 25;71(22):1812-20. doi: 10.1212/01.wnl.0000335930.18776.47. PMID: 19029521

See all (2)

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Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Therapy

Clinical prediction guides

Supplemental Content

Table of contents

Related information

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