Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome
- Inheritance: Autosomal dominant
- Gene: CXCR4
- Protein: CXCR4
- Test: CXCR4 Gene Sequencing
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