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Abstract：
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.
摘要：
已经在小鼠中广泛研究了集落刺激因子-1受体（CSF-1R）在巨噬细胞和生物体发育中的作用。在过去的十年里，CSF1R中的突变已被证明会导致两种儿童的罕见疾病（大脑异常，神经变性,和强肌硬化，OMIM#618476)和成人(CSF1R相关性白质脑病，OMIM#221820）开始。在这里，我们回顾了遗传学，外显率,和这些疾病的组织病理学特征，并讨论目前可用的Csf1r缺乏症动物模型在多大程度上提供了研究所涉及的潜在机制的系统。
