title: Familial CD8 deficiency due to a mutation in the CD8 alpha gene.
abstract: CD8 glycoproteins play an important role in both the maturation and function of MHC class I-restricted T lymphocytes. A 25-year-old man, from a consanguineous family, with recurrent bacterial infections and total absence of CD8(+) cells, was studied. Ab deficiencies and ZAP-70 and TAP defects were ruled out. A missense mutation (gly90-->ser) in both alleles of the immunoglobulin domain of the CD8 alpha gene was shown to correlate with the absence of CD8 expression found in the patient and two sisters. Conversely, high percentages of CD4(-)CD8(-)TCR alpha beta(+) T cells were found in the three siblings. A novel autosomal recessive immunologic defect characterized by absence of CD8(+) cells is described. These findings may help to further understanding of the role of CD8 molecules in human immune response.
authors: Department of Immunology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. odlcalle@hsp.santpau.es
authors: O
authors: O
authors: de la Calle-Martin
authors: M
authors: M
authors: Hernandez
authors: J
authors: J
authors: Ordi
authors: N
authors: N
authors: Casamitjana
authors: J I
authors: JI
authors: Arostegui
authors: I
authors: I
authors: Caragol
authors: M
authors: M
authors: Ferrando
authors: M
authors: M
authors: Labrador
authors: J L
authors: JL
authors: Rodriguez-Sanchez
authors: T
authors: T
authors: Espanol
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D000818:Animals; D000917:Antibody Formation; D001424:Bacterial Infections / Q000209:etiology; D016827:CD8 Antigens / Q000737:chemistry / Q000235:genetics*; D019556:COS Cells; D002522:Chlorocebus aethiops; D003241:Consanguinity; D003602:Cytotoxicity, Immunologic; D004252:DNA Mutational Analysis; D019281:Dimerization; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D021122:Protein Subunits; D011993:Recombinant Fusion Proteins / Q000276:immunology; D012008:Recurrence; D006178:Romani People / Q000235:genetics; D013030:Spain; D016176:T-Lymphocyte Subsets / Q000276:immunology / Q000473:pathology; D014162:Transfection
chemical_list: D016827:CD8 Antigens; D021122:Protein Subunits; D011993:Recombinant Fusion Proteins