Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

TNF receptor-associated periodic syndrome

Familial periodic fever is an autosomal dominant disorder caused by mutations of the TNFRSF1A gene. The clinical picture is characterized by typical inflammatory signs that occur periodically without the development of amyloidosis.

Historical Aspects

Familial periodic fever was first observed in a Scotch family. All generations periodically exhibited remarkable signs of inflammation (fever, leucocytosis, and accelerated erythrocytes sedimentation rate). The clinical course was benign. No amyloidosis was observed.[Error: Macro 'ref' doesn't exist]


Typical of periodic fever are recurrent inflammatory attacks and usually an instructive family history. Serositis may develop but not amyloidosis.


Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Cryopyrin-associated periodic syndrome
Familial mediterranean fever
Familiäres kälteinduziertes autoinflammatorisches Syndrom
Hereditary pediatric Behçet-like disease
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Inflammatory bowel disease
Interleukin 10 deficiency
Interleukin 10 receptor deficiency
Interleukin-1 receptor antagonist deficiency
Majeed syndrome
Mevalonate kinase-associated inflammatory diseases
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Proteasome-associated autoinflammatory syndrome
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Rheumatoid arthritis progression
STING-associated vasculopathy with onset in infancy
Susceptibility to malignant hyperthermia 5
Systemic-onset juvenile idiopathic arthritis
TNF receptor-associated periodic syndrome
Vasculitis due to ADA2 deficiency



McDermott MF et al. (1999) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.


Aganna E et al. (2001) Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.


Wildemann B et al. (2007) The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists.


Williamson LM et al. (1982) Familial Hibernian fever.


Mulley J et al. (1998) Gene localization for an autosomal dominant familial periodic fever to 12p13.


McDermott MF et al. (1998) Linkage of familial Hibernian fever to chromosome 12p13.


Drenth JP et al. (1994) Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.


Wang J et al. (1999) Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.


Toro JR et al. (2000) Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations.


Drenth JP et al. (2001) Hereditary periodic fever.


Weyhreter H et al. (2003) A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.


BOURONCLE BA et al. (1957) Periodic fever: occurrence in five generations.


Zhu S et al. (2006) Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.


Driesen O et al. (1968) A description of two brothers with permanently raised non-esterified aetiocholanolone blood level.


OMIM.ORG article

Omim 142680 [^]

Wikipedia article

Wikipedia EN (TNF_receptor_associated_periodic_syndrome) [^]
Update: April 29, 2019