- Patient Name: Robert S.
- Age: 40 years
- Consulting Specialist: Immunologist
- Reason for Consultation: Hypogammaglobulinemia
- Relevant Signs & Symptoms: Bronchiectasis, neutropenia, hypogammaglobulinemia, warts
Medical and Family History
- Neutropenia at age 3 years (found due to scheduled adenoidectomy) and evaluated by hematologist / oncologist for leukemia with negative findings
- Multiple hospitalizations for severe pneumonia and recurrent otitis media infections surgically treated throughout patient’s life; currently on short-term disability
- Referred to an immunologist at age 40 years, when hypogammaglobulinemia and innumerable flat warts (bilateral forearms and genitals, reported history since adolescence) were noted; triggered genetic testing and detection of CXCR4 pathogenic variant
- Noncontributory family history; no family members tested; no children, no siblings, and parents deceased
- Prior diagnosis: CVID
Medications
Test Results and Findings
Bone marrow biopsy (aged 3 yrs)
- Normal, according to patient
Lab findings (aged 27 yrs)
- Low ANC, WBC counts, and Ig levels
- Normal ALC
Genetic testing (aged 40 yrs)
- Identification of CXCR4 variant
Key Considerations
- In cases of unexplained chronic neutropenia with recurrent infections at an early age, consider genetic testing to inform a WHIM syndrome diagnosis.
- Lack of timely referral and appropriate testing may lead to long diagnostic delays and potentially debilitating or life-threatening complications, like end-organ damage.
- If signs and symptoms are suggestive of WHIM syndrome, consider asking about any prior or current warts that may not be visible on exam.
ALC=absolute lymphocyte count. ANC=absolute neutrophil count. CVID=common variable immunodeficiency.
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.
