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Related Concept Videos

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Related Experiment Video

Updated: Feb 10, 2026

Cultivation Methods of Spirochetes from Borrelia burgdorferi Sensu Lato Complex and Relapsing Fever Borrelia
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Periodic fever syndromes.

Helen J Lachmann1

  • 1National Amyloidosis Centre and Centre for Acute Phase Proteins, Division of Medicine, University College London, Royal Free Campus, Rowland Hill Street, London, NW3 2PF, UK.

Best Practice & Research. Clinical Rheumatology
|May 19, 2018
PubMed
Summary

Periodic fever syndromes are autoinflammatory diseases causing recurrent fevers and inflammation. Early diagnosis through clinical evaluation and genetic testing is crucial for managing these rare conditions and preventing complications like AA amyloidosis.

Keywords:
Aphthous stomatitisBlau syndromeChronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE)Cryopyrin-associated periodic syndromes (CAPS)Deficiency of IL-1 receptor antagonist (DIRA)Deficiency of IL-36 receptor antagonist (DITRA)Deficiency of adenosine deaminase 2 (DADA2)Familial Mediterranean fever (FMF)Mevalonate kinase deficiency (MKD)Pharyngitis and cervical adenitis (PFAPA)Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS)

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Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Periodic fever syndromes are autoinflammatory diseases characterized by recurrent fevers and systemic inflammation.
  • These conditions typically manifest in infancy or childhood, lacking autoantibodies or identifiable infections.

Purpose of the Study:

  • To provide insights into the molecular pathogenesis of periodic fever syndromes.
  • To highlight the importance of understanding innate immunity regulation through these disorders.

Main Methods:

  • Diagnosis relies on clinical acumen.
  • Genetic testing supports the diagnosis of periodic fever syndromes.

Main Results:

  • Commonly recognized disorders include CAPS, FMF, TRAPS, and MKD.
  • AA amyloidosis is a significant potential complication, varying in disease severity.
  • FMF is prevalent in Mediterranean populations, while other syndromes are rare.

Conclusions:

  • Effective therapies such as colchicine, IL-1 blockade, and anti-TNF agents are available.
  • There is growing interest in targeting interferon pathways for treatment.