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GENATLAS PHENOTYPE
last update : 02-02-2009
Symbol CSS2
Location 1q24.3
Name Canale-Smith syndrome 2
Other name(s) autoimmune lymphoproliferative syndrome 1B
Corresponding gene FASLG
Other symbol(s) ALPS, ALPS1B
Main clinical features
  • autoimmune inherited lymphoproliferative disorder in a patient exhibiting lymphadenopathy associated with systemic lupus erythromatosus (due to FAS or FASL mutations resulting primarily from the accumulation of lymphocytes due to the failure of FAS-mediated apoptosis)
    • Genetic determination not applicable
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name tumor necrosis factor (ligand) superfamily, member 6 (FAS ligand) TNFSF6
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion      
    Remark(s)