| Main clinical features
|
defect in surface expression of T-cell receptor-CD3 complex and defective signal transduction,through the TCR
severe defect in the expression of the T-cell receptor CD3-complex, immunodeficiency and severe autoimmune disorder
some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood
this deficiency should be considered among other primary immunodeficiencies with predominantly autoimmune manifestations (PMID: 24910257)) |