- Patient Name: Peter K.
- Age: 14 years
- Consulting Specialist: Pediatric hematologist
- Reason for Consultation: Chronic neutropenia
- Relevant Signs & Symptoms: Chronic neutropenia, warts, hypogammaglobulinemia, infections, myelokathexis
Medical and Family History
- Referred to a hematologist at age 9 years for a history of neutropenia and frequent otitis media between the ages of 3 and 6 years, which improved spontaneously as the patient aged; noted cutaneous warts at age 4 years (≤10 on both hands), most of which resolved spontaneously
- Immunologic evaluation showed adequate responses to pneumococcal, tetanus, and diphtheria vaccines years after his last boosters
- Revealed to have hypogammaglobulinemia, peripheral blood leukopenia, and lymphopenia
- No relevant family history was reported
- Prior diagnosis: none
Medications
Test Results and Findings
Bone marrow biopsy (aged 9 yrs)
- Increased myeloid-to-erythroid ratio and marked hypermaturity of neutrophils indicative of myelokathexis
Lab findings (aged 9 yrs)
- Low ANC, ALC, WBC counts, and Ig levels
Genetic testing (aged 9 yrs)
- Identification of CXCR4 variant
Key Considerations
- This patient illustrates the classic presentation of WHIM syndrome with all four features present, although not all were recognized concurrently.
- IVIG restored Ig levels and prevented further infections; however chronic neutropenia and lymphopenia remained despite administration of G-CSF.
- An informed diagnosis of WHIM syndrome may help guide a more tailored treatment plan.
ALC=absolute lymphocyte count. ANC=absolute neutrophil count. G-CSF=granulocyte colony-stimulating factor. Ig=immunoglobulin. IVIG=intravenous immunoglobulin. WBC=white blood cell.
Note: Hypothetical patient profiles are based on real case studies.
