- Patient Name: Emily P.
- Age: 15 years
- Consulting Specialist: Pediatric immunologist
- Reason for Consultation: H influenzae meningitis, chronic neutropenia
- Relevant Signs & Symptoms: Otitis media, tetralogy of Fallot, neutropenia, lymphopenia, recurrent infections
Medical and Family History
- Three to four episodes of otitis media in the first few years of life, hearing loss, tetralogy of Fallot (requiring cardiac surgery at age 1 year), early-onset intermittent neutropenia, lymphopenia, and recurrent bacterial and viral infections
- Referred to immunologist at age 4 years due to H influenzae meningitis; immunologic evaluation revealed marked neutropenia, hypogammaglobulinemia, and a lack of protective vaccine titers to tetanus and H influenzae type B vaccinations
- No relevant family history was reported
- Prior diagnosis: primary immunodeficiency (PID)
Medications
Test Results and Findings
Bone marrow biopsy (aged 4 yrs)
- Granulocytic hyperplasia and occasional hypersegmented neutrophils consistent with myelokathexis
Lab findings (aged 4 yrs)
- Low ANC, ALC, WBC counts, and Ig levels
Genetic testing (aged 4 yrs)
- Identification of CXCR4 variant
Key Considerations
- Warts present in only 40% of WHIM syndrome cases and typically do not appear until the second decade of life. Even in the absence of warts, WHIM syndrome should be considered in patients with neutropenia, lymphopenia, recurrent bacterial and viral infections, and/or hypogammaglobulinemia.
- This patient illustrates the potential for poor vaccine response and subsequent vaccine-preventable infections in patients with WHIM syndrome.
- For patients with poor vaccine response and/or tetralogy of Fallot, consider genetic testing to inform a WHIM syndrome diagnosis and 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.
