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GENATLAS PHENOTYPE
last update : 25-08-2011
Symbol GPP
Location 2q13
Name generalized pustular psoriasis
Corresponding gene IL36RN
Main clinical features
  • formation of sterile cutaneous pustules, neutrophilia, fever and features of systemic inflammation
  • sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein, which may be associated with plaque-type psoriasis
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    defense and immunity
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)
  • autoinflammatory disease resulting from excessive expression of interleukin-1 family proteins in the skin and disinhibition of the signaling pathway that these proteins activate (PMID: 21848462))