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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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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Figure 1

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CD8 expression analysis. (a) Expression of CD8 on T lymphocytes and CD3–...
CD8 expression analysis. (a) Expression of CD8 on T lymphocytes and CD3– cells in the CD8-deficient patient and a healthy donor. (b) CD8β expression studied by Western blot analysis in two controls (C1 is a primary immunodeficient patient with low CD8 T cells and C2 is a healthy adult) and in the CD8-deficient patient. Weak intracellular expression of this molecule was detected in the patient; β-actin was the same as in controls. (c) Messenger RNAs for CD8α and β were detected by RT-PCR at similar levels in the CD8-negative individuals, their relatives, and normal control.