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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.

ORPHA:436166

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: -

  A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

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)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.