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GENATLAS PHENOTYPE
last update : 13-04-2018
Symbol FCAS4
Location 2p22.3
Name Familial cold autoinflammatory syndrome 4
Corresponding gene NLRC4
Main clinical features
  • autoinflammatory disorder characterized by onset of episodic high fevers, urticaria-like rash, and arthralgias beginning at 2 to 3 months of age
  • the symptoms were often induced by exposure to cold stimuli; the rash was not accompanied by itching, and the patients did not have splenomegaly or bone erosions; symptoms resolved without treatment in most cases, although some patients took nonsteroidal antiinflammatory drugs to reduce joint pain
  • Genetic determination autosomal dominant
    Function/system disorder defense and immunity
    Type disease
    Remark(s)