5 Facts you should know about

Diagnosing WHIM syndrome

The combination of recurrent bacterial infections and recalcitrant warts are key signs that WHIM syndrome should be considered

Clinical diagnosis of WHIM is made difficult by the fact that many patients may only manifest a subset of the expected features

If a biopsy shows potential myelokathexis, sequencing of the CXCR4 gene should be performed looking for a characteristic mutation

Many WHIM patients have a family history suggesting autosomal dominant inheritance of the features of the disorder

When the workup of immune function detects neutropenia, lymphopenia and hypogammaglobulinemia, the diagnosis of WHIM should be strongly considered

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