Familial Defect of Cd3 (T3) Expression by T Cells Associated With Rare Gut Epithelial Cell Autoantibodies

A specific defect in CD3 gamma-chain gene transcription results in loss of T-cell receptor/CD3 expression late after human immunodeficiency virus infection of a CD4+ T-cell line.

“…In the absence of any one chain, the TCR/CD3 complex cannot be correctly assembled and transported to the plasma membrane (18 Functionally, the loss of TCR/CD3 in HIV-infected T cells would significantly inhibit their ability to respond immunologically. A rare case of a familial defect in CD3 expression is clinically characterized by increased susceptibility to infection (39). Patients with chronic fatigue syndrome also have T cells deficient in CD3 expression leading to abnormal T-cell function (40).…”

The Impact of Single Amino Acid Substitutions in CD3γ on the CD3ϵγ Interaction and T-Cell Receptor–CD3 Complex Formation

“…In 1986, Regueiro et al [12] reported a human CD3␥ deficiency [13]. This was the first primary T-cell receptor immunodeficiency in humans for which the genetic basis could be elucidated, Mendelian Inheritance in Man (MIM) number 186740.…”

Human congenital T-cell receptor disorders

“…The first TCRID was a human familial CD3 expression deficiency in a child with SCID and in his healthy sibling (Regueiro et al 1986), later shown to be due to a complete CD3γ deficiency (Arnaiz-Villena et al 1992). A second TCRID was soon reported (Thoenes et al 1992) and shown to be due to partial CD3ɛ deficiency (Soudais et al 1993).…”