title: A defect of CD16-positive monocytes can occur without disease.
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.
authors.affiliation: Comprehensive Pneumology Center (CPC), Ludwig-Maximilians University, Asklepios Klinik Gauting and Helmholtz Center Munich, München, Germany.
authors.forename: Marion
authors.initials: M
authors.lastname: Frankenberger
authors.forename: Arif B
authors.initials: AB
authors.lastname: Ekici
authors.forename: Matthias W
authors.initials: MW
authors.lastname: Angstwurm
authors.forename: Harald
authors.initials: H
authors.lastname: Hoffmann
authors.forename: Thomas P J
authors.initials: TP
authors.lastname: Hofer
authors.forename: Irene
authors.initials: I
authors.lastname: Heimbeck
authors.forename: Peter
authors.initials: P
authors.lastname: Meyer
authors.forename: Peter
authors.initials: P
authors.lastname: Lohse
authors.forename: Matthias
authors.initials: M
authors.lastname: Wjst
authors.forename: Karl
authors.initials: K
authors.lastname: Häussinger
authors.forename: André
authors.initials: A
authors.lastname: Reis
authors.forename: Loems
authors.initials: L
authors.lastname: Ziegler-Heitbrock
mesh_terms: D000328:Adult; D015551:Autoimmunity; D004252:DNA Mutational Analysis; D006801:Humans; D007239:Infections / Q000235:genetics / Q000276:immunology*; D018950:Lipopolysaccharide Receptors / Q000378:metabolism; D016173:Macrophage Colony-Stimulating Factor / Q000097:blood / Q000235:genetics; D008297:Male; D009000:Monocytes / Q000276:immunology*; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010996:Pleural Effusion / Q000235:genetics / Q000276:immunology*; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics; D017452:Receptors, IgG / Q000235:genetics / Q000378:metabolism*; D012008:Recurrence
chemical_list: D018950:Lipopolysaccharide Receptors; D017452:Receptors, IgG; D016173:Macrophage Colony-Stimulating Factor; D016186:Receptor, Macrophage Colony-Stimulating Factor