- Patient Name: Michelle T.
- Age: 25 years
- Consulting Specialist: Hematologist / oncologist
- Reason for Consultation: Newborn son diagnosed with WHIM syndrome
- Relevant Signs & Symptoms: Infections, lymphopenia, warts
Medical and Family History
- Lifelong history of leukopenia, multiple infections (pneumonia and otitis media requiring myringotomy tubes), multiple hospitalizations without ICU admission, and warts on hands and arms
- At age 25 years, had a son who was diagnosed with neutropenia upon NBS, prompting genetic testing for both patient and son that revealed a CXCR4 mutation in each
- Patient’s mother presented with neutropenia, warts, and partial lung resection from bronchiectasis, but not tested for CXCR4 variants
- Prior diagnosis: none
Medications
Test Results and Findings
Bone marrow biopsy (aged 4 yrs)
- Myelokathexis noted without suspicion of WHIM syndrome
Lab findings (aged 25 yrs)
- Low ANC, ALC, and WBC counts
- Normal Ig levels
Genetic testing (aged 25 yrs)
- Identification of CXCR4 variant
Key Considerations
- WHIM syndrome is a known autosomal dominant condition; upon diagnosis, consider genetic screening of other family members, especially those with a history of frequent infections and/or warts.
- Chronic neutropenia alone or with lymphopenia, monocytopenia, or both could indicate WHIM syndrome.
ALC=absolute lymphocyte count. ANC=absolute neutrophil count. G-CSF=granulocyte colony-stimulating factor. Ig=immunoglobulin. NBS=newborn screening. WBC=white blood cell.
Note: Hypothetical patient profiles are based on real case studies.
