Recurrent Respiratory Infections Revealing CD8α Deficiency

J Clin Immunol. 2015 Nov;35(8):692-5. doi: 10.1007/s10875-015-0213-x. Epub 2015 Nov 12.

Abstract

CD8A encodes the CD8α chain of the dimeric CD8 protein, a critical coreceptor of cytotoxic T cells. We report here the comprehensive immunological evaluation of a child with a CD8A missense mutation, providing evidence that CD8 deficiency increases susceptibility to recurrent respiratory infections without interfering with the TCR-mediated proliferation of T cells. These observations expand the known phenotypes associated with CD8 deficiency.

Keywords: CD8; CD8A; CID combined immune deficiency; TCR signaling; immunophenotyping.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • CD8 Antigens / genetics
  • CD8 Antigens / metabolism*
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics
  • Infant
  • Lymphocyte Subsets / physiology*
  • Male
  • Mutation, Missense / genetics
  • Pedigree
  • Phenotype
  • Receptors, Antigen, T-Cell / metabolism
  • Recurrence
  • Respiratory Tract Infections / diagnosis*
  • Respiratory Tract Infections / genetics
  • Signal Transduction / genetics
  • T-Lymphocytes, Cytotoxic / physiology*

Substances

  • CD8 Antigens
  • CD8alpha antigen
  • Receptors, Antigen, T-Cell