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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]

Symptoms

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

Systematic

Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
CARD14 associated psoriasis
Chronic recurrent multifocal osteomyelitis
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
F12
Familial cold autoinflammatory syndromes
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
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Proteasome-associated autoinflammatory syndrome
Pseudo-TORCH-Syndrom
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
SH3BP2 deficienc with multilocular cysticy disease of the mandibles
STING-associated vasculopathy with onset in infancy
Singleton-Merten syndrome
Susceptibility to malignant hyperthermia 5
Susceptibility to rheumatoid arthritis
Systemic autoinflammatory disease
Systemic-onset juvenile idiopathic arthritis
TNF receptor-associated periodic syndrome
TNFRSF1A

References:

1.

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.

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2.

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.

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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.

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

OMIM.ORG article

Omim 142680 external link
16.

Wikipedia article

Wikipedia EN (TNF_receptor_associated_periodic_syndrome) external link
Update: Aug. 14, 2020
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