Modeling CSF-1 receptor deficiency diseases – how close are we?

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


The role of colony-stimulating factor-1 receptor (CSF-1R) in macrophage and organismal development has been extensively studied in mouse. Within the last decade, mutations in the CSF1R have been shown to cause rare diseases of both pediatric (Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis, OMIM #618476) and adult (CSF1R-related leukoencephalopathy, OMIM #221820) onset. Here we review the genetics, penetrance, and histopathological features of these diseases and discuss to what extent the animal models of Csf1r deficiency currently available provide systems in which to study the underlying mechanisms involved.

Original languageEnglish (US)
Pages (from-to)5049-5073
Number of pages25
JournalFEBS Journal
Issue number17
StatePublished - Sep 2022


  • ALSP
  • CRL
  • CSF-1R
  • HDLS
  • POLD
  • dysosteosclerosis
  • leukodystrophy
  • microglia
  • neurodegeneration

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology


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