Circulating macrophage colony-stimulating factor is not reduced in malignant osteopetrosis

P. J. Orchard, N. Dahl, S. L. Aukerman, B. R. Blazer, L. L. Key

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Malignant osteopetrosis is a disorder characterized by a deficiency in osteoclast number or function. In one animal model of osteopetrosis, the op/op mouse, macrophage colony-stimulating factor (M-CSF) is absent, and the administration of M-CSF corrects the defects. We evaluated the serum of 13 patients with malignant osteopetrosis by an M-CSF radioimmunoassay to determine if a quantitative M-CSF deficiency existed in these patients. All patients had M-CSF present in levels equal to or higher than control serum. In addition, serum from 6 osteopetrotic patients was tested in a bioassay to determine if the M-CSF present is biologically active, and in all cases there was demonstrable activity in these samples. We provide evidence that deficiency of circulating M-CSF is unlikely to be a major contributor to the etiologic basis for the majority of children with malignant osteopetrosis.

Original languageEnglish (US)
Pages (from-to)103-105
Number of pages3
JournalExperimental Hematology
Issue number1
StatePublished - 1992


  • M-CSF
  • osteopetrosis
  • radioimmunoassay


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