- Patient Name: Alex C.
- Age: 14 years
- Consulting Specialist: Pediatric hematologist
- Reason for Consultation: Recurrent infections, fever, chronic neutropenia
- Relevant Signs & Symptoms: Myelokathexis, otitis, recurrent infections
Medical and Family History
- Repeated ER visits at age 2 months for respiratory symptoms, fever, decreased oral intake, slightly bloody stools, and reduced wet diapers
- Chronic neutropenia not detected until age 2 years
- Multiple episodes of otitis media in the first few years of life
- Father with possible bleeding issues and infections; one sister with allergies and asthma; family members not tested for CXCR4 variants
- Prior diagnosis: chronic neutropenia in early childhood
Medications
Test Results and Findings
Bone marrow biopsy (aged 2 yrs)
- Myelokathexis noted without suspicion of WHIM syndrome (repeated at age 5 years due to chronic neutropenia and initially read as “normal”; myelokathexis confirmed after retrospective review)
Lab findings (aged 2 yrs)
- Low ANC and WBC counts
- Normal ALC and Ig levels
Genetic testing (aged 14 yrs)
- Identification of CXCR4 variant
Key Considerations
- If neutropenia and lymphopenia are present, consider genetic testing for CXCR4 variants, even in the absence of warts or hypogammaglobulinemia.
- Identification of myelokathexis can be challenging and is sometimes missed; in the presence of symptoms indicative of WHIM syndrome, consider reevaluation of any prior bone marrow biopsies for evidence of myelokathexis.
ALC=absolute lymphocyte count. ANC=absolute neutrophil count. G-CSF=granulocyte colony-stimulating factor. Ig=immunoglobulin. WBC=white blood cell.
Note: Hypothetical patient profiles are based on real case studies.
