WHIM syndrome

Patients have neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. Recurrent bacterial infections are typically minor and responsive to oral antibiotics, as the resultant inflammatory state induces neutrophil release from the bone marrow. Respiratory infections (sinusitis, otitis and pneumonia) and cellulitis are common infections complications. Late in life most of the patients develop widespread and recalcitrant warts with common Human Papilloma Virus. Cell blood counts show an absolute neutrophil count usually bellow 300/μl, a variable degree of lymphopenia, but normal hemoglobin levels and platelets.


Diagnostic recommendations

Additional Information

Therapeutic options

  • Infectious episodes are reduced by monthly injections of intravenous immunoglobulin. Neutrophil counts and marrow cytology are normalized by daily injections of G-CSF or GM-CSF. Warts are generally therapy-resistant, requiring laser ablation for management. There is a high risk of malignant transformation of genital HPV infection that requires careful monitoring.
  • Neutropenia, eMedicine

Research programs, clinical trials