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Periodic fever-infantile enterocolitis-autoinflammatory syndrome

Disease definition

A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.


Classification level: Disorder
  • Synonym(s):
    • NLRC4-related MAS
    • NLRC4-related autoinflammatory syndrome with MAS
    • NLRC4-related autoinflammatory syndrome with macrophage activation syndrome
    • NLRC4-related infantile enterocolitis-autoinflammatory syndrome
    • NLRC4-related macrophage activation syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: E85.0
  • OMIM: 616050
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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