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GENATLAS PHENOTYPE
last update : 01-09-2017
Symbol IMD18
Location 11q23.3
Name immunodeficiency 18 , severe, combined lacking T cell expression
Corresponding gene CD3E
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
    Remark(s)