Key Clinical and Laboratory Features

  • Common clinical features: Chronic neutropenia that may cause susceptibility to recurrent, severe bacterial infections and sepsis. Recurrent bacterial sinopulmonary infections (otitis media, sinusitis, bronchitis, pneumonias) caused by hypogammaglobulinemia. Severe warts/papillomas (cutaneous/vaginal)
  • Other clinical features: Viral-associated (HPV, EBV) neoplasias
  • Physical exam: Cutaneous or vaginal warts and papillomas.
  • Common laboratory features: Neutropenia, B-cell lymphopenia, lack of switched-memory B cells, hypogammaglobulinemia, decreased specific antibody responses, bone marrow biopsy shows myelokathesxis

Testing Approach

  Test Comments
Gene CXCR4 Gene Sequencing   The gold standard for confirming a diagnosis of WHIM syndrome in a patient with suggestive symptoms.
Protein and Function N/A There are currently no available clinical tests to evaluate CXCR4 protein expression or function although neutropenia is a surrogate measure because neutrophils are not able to traffic out of the bone marrow normally in the absence of functional CXCR4.
  • Complete blood count with differential: Neutropenia is consistently present.
  • Lymphocyte subset analysis: B-cell lymphopenia is common.
  • Quantitative immunoglobulin levels: IgG is typically low.
  • Specific antibody titers: Typically low.
  • Bone marrow biopsy: Myelokathexis is typical.