Familial CD8 deficiency due to a mutation in the CD8α gene
Oscar de la Calle-Martin, … , Jose L. Rodriguez-Sanchez, Teresa Espanol
Oscar de la Calle-Martin, … , Jose L. Rodriguez-Sanchez, Teresa Espanol
Published July 1, 2001
Citation Information: J Clin Invest. 2001;108(1):117-123. https://doi.org/10.1172/JCI10993.
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Article

Familial CD8 deficiency due to a mutation in the CD8α 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 CD8α gene was shown to correlate with the absence of CD8 expression found in the patient and two sisters. Conversely, high percentages of CD4–CD8–TCRαβ+ 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

Oscar de la Calle-Martin, Manuel Hernandez, Jose Ordi, Natalia Casamitjana, Juan I. Arostegui, Isabel Caragol, Monserrat Ferrando, Moises Labrador, Jose L. Rodriguez-Sanchez, Teresa Espanol

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Segregation of the mutation in the CD8α gene. (a) Sequence of the genomi...
Segregation of the mutation in the CD8α gene. (a) Sequence of the genomic DNA for the CD8α gene of the patient (II-4), his father (I-2), and an unaffected sibling (II-1). This sequence corresponds to the complementary strand around position 331 of the CD8α gene and was performed with the PCR products as templates. (b) Pedigree, including genotype and phenotype data of CD8. Square symbols denote male and circles female family members; filled symbols denote homozygous mutant allele; shaded symbols represent heterozygous carriers of the mutant CD8α allele; open symbols represent homozygous wild-type alleles. A) percentage of CD3+CD8+ T cells; B) fluorescence intensity of CD8α expression; C) soluble CD8 concentration in serum (U/ml). Family member II-6 was not tested.