Article

WHIM Syndrome-linked CXCR4 mutations drive osteoporosis by mitigating the osteogenic specification of skeletal stromal cells

2022-01-18

Abstract excerpt

<title>Abstract</title> <p>WHIM Syndrome (WS) is a rare immunodeficiency caused by gain-of-function <italic>CXCR4</italic> mutations. Here we report for the first time a substantial decrease in bone mineral density in 25% of WS patients and bone defects leading to osteoporosis in a WS mouse model. Reduction in bone content involved impaired CXCR4 desensitization that disrupts cell cycle progression and osteogenic...

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Literature Corpus work: 5f08f333-e0b9-5915-b19c-22d8c8e5b7e5
DOI: 10.21203/rs.3.rs-1186490/v1

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