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GENATLAS PHENOTYPE
last update : 10/07/2006
Symbol CD3E
Location 11q23.3
Name immunodeficiency, severe, combined lacking T cell expression
Corresponding gene CD3E
related resource CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency
Main clinical features
  • defect in surface expression of T-cell receptor-CD3 complex and defective signal transduction, through the TCR . reduced circulating T cells, absence of serum Ig in spite of normal B-cell number, and preserved NK cell number and function and recurrent, persistent infection by opportunistic organisms
  • Genetic determination autosomal dominant
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name antigen CD3, epsilon polypeptide
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   absent protein homozygous mutation in two families