Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II)

Clin Exp Immunol. 1996 Mar;103(3):408-13. doi: 10.1111/j.1365-2249.1996.tb08295.x.

Abstract

Susceptibility to herpes virus infections has been described in experimental animals depleted of NK cells and in patients with defective NK cell function. We have identified a child with recurrent infections, especially with herpes simplex virus, who had a decreased number of CD56(+)CD3(-) NK cells in circulation. Her NK cells expressed an altered form of the Fc receptor for IgG type IIIA (Fc gamma RIIIA or CD16-II) which was not reactive with the anti-CD16-II MoAb B73.1. Sequence analysis revealed the patient to be homozygous for a T to A substitution at position 230 of CD16-II cDNA, predicting a Leu(66) to His(66) change in the first immunoglobulin domain of CD16-II at the B73.1 recognition site. Spontaneous NK cell activity of the patient's peripheral blood mononuclear cells (PBMC) was markedly decreased, while antibody-dependent cellular cytotoxicity (ADCC) was unaffected. These results suggest that this child suffers from a defect affecting the development and function of NK cells, resulting in NK cytopenia and clinically significant immunodeficiency. The role of the CD16-II mutant in the pathogenesis of the patient's NK cell deficiency is discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Antibodies, Monoclonal
  • Antibody-Dependent Cell Cytotoxicity / immunology
  • Base Sequence
  • Child, Preschool
  • Epitopes / immunology
  • Female
  • Herpesviridae Infections / immunology
  • Humans
  • Immunologic Deficiency Syndromes / blood
  • Immunologic Deficiency Syndromes / immunology*
  • Killer Cells, Natural / immunology*
  • Molecular Sequence Data
  • Otitis Media / immunology
  • Phenotype
  • Receptors, IgG / immunology*
  • Sinusitis / immunology

Substances

  • Antibodies, Monoclonal
  • Epitopes
  • Receptors, IgG