title: Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency.
abstract: The T-cell receptor (TCR) is composed of two glycoproteins (alpha and beta or gamma and delta) associated with four invariant polypeptides (CD3-gamma, delta, epsilon and zeta). The majority of TCR/CD3 complexes contain six polypeptide chains, and although there is some flexibility in the complex subunit stoichiometry the CD3-epsilon chain is central to CD3 core assembly and full complex formation. We have described previously defective expression of the TCR/CD3 complex in an immunodeficient child. We now report that two independent CD3-epsilon gene mutations present in the parents have segregated in the patient, leading to defective CD3-epsilon chain synthesis and preventing normal association and membrane expression of the TCR/CD3 complex.
authors: INSERM U 132, Hôpital Necker Enfants Malades, Paris, France.
authors: C
authors: C
authors: Soudais
authors: J P
authors: JP
authors: de Villartay
authors: F
authors: F
authors: Le Deist
authors: A
authors: A
authors: Fischer
authors: B
authors: B
authors: Lisowska-Grospierre
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D017252:CD3 Complex / Q000235:genetics* / Q000378:metabolism; D002478:Cells, Cultured; D002675:Child, Preschool; D004247:DNA; D005260:Female; D015870:Gene Expression; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics; D011948:Receptors, Antigen, T-Cell / Q000235:genetics* / Q000378:metabolism
chemical_list: D017252:CD3 Complex; D012333:RNA, Messenger; D011948:Receptors, Antigen, T-Cell; D004247:DNA