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5 Facts you should know about
Diagnosing WHIM syndrome
1
The combination of recurrent bacterial infections and recalcitrant warts are key signs that WHIM syndrome should be considered
2
Clinical diagnosis of WHIM is made difficult by the fact that many patients may only manifest a subset of the expected features
3
If a biopsy shows potential myelokathexis, sequencing of the CXCR4 gene should be performed looking for a characteristic mutation
4
Many WHIM patients have a family history suggesting autosomal dominant inheritance of the features of the disorder
5
When the workup of immune function detects neutropenia, lymphopenia and hypogammaglobulinemia, the diagnosis of WHIM should be strongly considered
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