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Condition report · Immunological

Periodic Fever Syndromes

A group of inherited autoinflammatory conditions that cause repeated episodes of fever, rash, joint pain and inflammation without infection. Effective treatments that block the inflammatory signal interleukin-1 are available for these conditions.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

Cryopyrin-associated periodic syndrome (CAPS)

Autosomal dominant

A spectrum of conditions caused mainly by changes in NLRP3, ranging from cold-induced rashes and fevers to chronic inflammation affecting the skin, joints, hearing and brain.

What a diagnosis changes

Interleukin-1 blocking treatment controls symptoms and helps prevent hearing loss and amyloidosis.

Genes analysed

Also known as

caps; Cryopyrinopathy

Includes 7 related subtypes ↓
  • CINCA syndrome
  • familial cold autoinflammatory syndrome
  • familial cold autoinflammatory syndrome 1
  • familial cold autoinflammatory syndrome 2
  • familial cold autoinflammatory syndrome 3
  • familial cold autoinflammatory syndrome 4
  • Muckle-Wells syndrome
MONDO:0016168Orphanet 208650MedGen 412215

TNF receptor-associated periodic syndrome (TRAPS)

Autosomal dominant

Caused by changes in TNFRSF1A, it leads to prolonged fever episodes with abdominal pain, muscle pain, rash and eye swelling.

What a diagnosis changes

Anti-inflammatory and interleukin-1 blocking treatment reduces attacks and the long-term risk of kidney amyloidosis.

Genes analysed

Also known as

autosomal dominant familial periodic fever; familial Hibernian fever; FHF; FPF; TNF receptor 1-associated periodic syndrome; TNF receptor-associated periodic syndrome; TRAPS; TRAPS syndrome; tumor necrosis factor receptor 1 associated periodic syndrome; Tumor Necrosis Factor Receptor-Associated Periodic Syndrome; tumour necrosis factor receptor 1 associated periodic syndrome; tumour necrosis factor receptor-associated periodic syndrome

MONDO:0007727OMIM 142680Orphanet 32960MedGen 226899

Mevalonate kinase deficiency (MKD)

Autosomal recessive

Caused by changes in MVK, it ranges from recurrent fevers with swollen lymph nodes and abdominal pain (hyper-IgD syndrome) to a severe form with developmental problems (mevalonic aciduria).

What a diagnosis changes

Recognition allows targeted treatment of attacks and avoids unnecessary investigations.

Genes analysed

Includes 2 related subtypes ↓
  • hyperimmunoglobulinemia D with periodic fever
  • mevalonic aciduria
MONDO:0017708Orphanet 309025MedGen 87453

Limitations

  • In some people with the severe form of CAPS, the NLRP3 change is present in only a proportion of cells (mosaicism) and may fall below the level reliably detected by sequencing.

Other immunological conditions

All conditions →

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