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5 Facts you should know about
The Cause of the
WHIM syndrome
1
WHIM syndrome is caused by variants in the CXCR4 gene
2
In WHIM syndrome, the increased activity of CXCR4 prevents mature neutrophils from leaving the bone marrow and entering the bloodstream
3
Enhanced activity of CXCR4 also results in senescence with apoptosis of mature neutrophils retained in the marrow
4
It also results in B cell
dysfunction, leading to low immunoglobulin levels (hypogammaglobulinemia)
5
The syndrome is passed in an autosomal dominant inheritance manner
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