5 Facts you should know about

The Cause of the
WHIM syndrome

WHIM syndrome is caused by variants in the CXCR4 gene

In WHIM syndrome, the increased activity of CXCR4 prevents mature neutrophils from leaving the bone marrow and entering the bloodstream

Enhanced activity of CXCR4 also results in senescence with apoptosis of mature neutrophils retained in the marrow

It also results in B cell
dysfunction, leading to low immunoglobulin levels (hypogammaglobulinemia)

The syndrome is passed in an autosomal dominant inheritance manner

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