Presenter Status
Resident/Psychology Intern
Abstract Type
Case Report
Primary Mentor or Principal Investigator
Mary Nguyen Jacobson, MD FAAAAI FACAAI
Presentation Type
Poster
Start Date
19-5-2026 11:00 AM
End Date
19-5-2026 12:00 PM
Abstract Text
Introduction: WHIM syndrome is a rare, autosomal dominant primary immunodeficiency characterized by Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. It results from gain-of-function mutations in the CXCR4 gene and often presents with recurrent infections and severe leukopenia. Early diagnosis is critical to prevent infectious and long-term complications.
Case Description: A 16-year-old male with chronic leukopenia presented with fatigue, fevers, night sweats, and persistent cough. Initial labs showed profound leukopenia (WBC 0.93 K/µL), severe neutropenia (ANC 260), and lymphopenia (450). CT chest demonstrated a thick-walled cavitary lesion. He was admitted and started on broad-spectrum antibiotics. Further workup included flow cytometry which demonstrated markedly reduced B cells (33 cells/µL) with naive predominance, low T cells (308 cells/µL), and preserved NK cells. Immunoglobulin levels were within normal limits. Pneumococcal antibody response was poor, with protective titers to only 1 of 23 serotypes. Bone marrow biopsy showed myelokathexis, and next-generation sequencing identified a heterozygous pathogenic CXCR4 variant (c.1000C>T, p.Arg334Ter), confirming autosomal dominant WHIM syndrome. The patient improved on broad-spectrum antibiotics and was discharged on levofloxacin and voriconazole but was lost to follow-up.
Discussion: This case illustrates a delayed diagnosis of WHIM syndrome in an adolescent with longstanding unexplained leukopenia and a recent severe pulmonary infection. This highlights the importance of genetic testing and early involvement of immunology in evaluating chronic cytopenias. Bone marrow findings of myelokathexis combined with molecular testing were critical in reaching the diagnosis. This case emphasizes the need to consider WHIM syndrome in adolescents with persistent neutropenia and recurrent infections to prevent long-term complications.
Diagnosis of WHIM Syndrome in an Adolescent with Cavitary Pneumonia and Chronic Leukopenia
Introduction: WHIM syndrome is a rare, autosomal dominant primary immunodeficiency characterized by Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. It results from gain-of-function mutations in the CXCR4 gene and often presents with recurrent infections and severe leukopenia. Early diagnosis is critical to prevent infectious and long-term complications.
Case Description: A 16-year-old male with chronic leukopenia presented with fatigue, fevers, night sweats, and persistent cough. Initial labs showed profound leukopenia (WBC 0.93 K/µL), severe neutropenia (ANC 260), and lymphopenia (450). CT chest demonstrated a thick-walled cavitary lesion. He was admitted and started on broad-spectrum antibiotics. Further workup included flow cytometry which demonstrated markedly reduced B cells (33 cells/µL) with naive predominance, low T cells (308 cells/µL), and preserved NK cells. Immunoglobulin levels were within normal limits. Pneumococcal antibody response was poor, with protective titers to only 1 of 23 serotypes. Bone marrow biopsy showed myelokathexis, and next-generation sequencing identified a heterozygous pathogenic CXCR4 variant (c.1000C>T, p.Arg334Ter), confirming autosomal dominant WHIM syndrome. The patient improved on broad-spectrum antibiotics and was discharged on levofloxacin and voriconazole but was lost to follow-up.
Discussion: This case illustrates a delayed diagnosis of WHIM syndrome in an adolescent with longstanding unexplained leukopenia and a recent severe pulmonary infection. This highlights the importance of genetic testing and early involvement of immunology in evaluating chronic cytopenias. Bone marrow findings of myelokathexis combined with molecular testing were critical in reaching the diagnosis. This case emphasizes the need to consider WHIM syndrome in adolescents with persistent neutropenia and recurrent infections to prevent long-term complications.
Comments
Poster Board Number: 1