A defect of CD16-positive monocytes can occur without disease

Immunobiology. 2013 Feb;218(2):169-74. doi: 10.1016/j.imbio.2012.02.013. Epub 2012 Feb 28.

Abstract

The CD16-positive monocytes have been first described in 1988 but to date no selective defect in the number of these cells in blood has been reported. We now describe a family in which three of four siblings lack both CD16-positive monocyte subsets, i.e. the nonclassical and the intermediate monocytes. All three had CD16-positive monocytes of 2 cells/μl or less as compared to 52±18 cells/μl in healthy controls. The index case was affected by recurrent pleural effusion and infections and had evidence of an auto-inflammatory condition but no mutation of any of the relevant candidate genes. The other two siblings without CD16-positive monocytes were apparently healthy. There was no defect in serum M-CSF levels and no mutation in the M-CSF and M-CSFR genes. The data indicate that the absence of CD16-positive monocytes in blood does not lead to disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Autoimmunity
  • DNA Mutational Analysis
  • Humans
  • Infections / genetics
  • Infections / immunology*
  • Lipopolysaccharide Receptors / metabolism
  • Macrophage Colony-Stimulating Factor / blood
  • Macrophage Colony-Stimulating Factor / genetics
  • Male
  • Monocytes / immunology*
  • Mutation / genetics
  • Pedigree
  • Pleural Effusion / genetics
  • Pleural Effusion / immunology*
  • Receptor, Macrophage Colony-Stimulating Factor / genetics
  • Receptors, IgG / genetics
  • Receptors, IgG / metabolism*
  • Recurrence

Substances

  • Lipopolysaccharide Receptors
  • Receptors, IgG
  • Macrophage Colony-Stimulating Factor
  • Receptor, Macrophage Colony-Stimulating Factor