Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient

To the Editor: The analysis of single gene defects in patients with primary immunodeficiency has provided important insights into the normal physiology of the immune system and is particularly valuable in those instances where the human and murine immune systems are different.1 CD247 (T-cell receptor [TCR] ζ/CD3ζ) is one of the invariant chains that, along with CD3γ, CD3δ, CD3[epsilon], and a clonotypic TCR heterodimer (αβ or γδ), forms the TCR antigen receptor complex expressed at the surfaces of T lymphocytes. [...]as expected, surface expression of the 2B4 receptor, which is not known to associate with CD247, was normal in all subjects, irrespective of the CD247 genotype (Fig 1, E).