WHIM Syndrome: First Reported Case in a Patient of African Ancestry

Area of Science:

• Immunology
• Genetics
• Hematology

Background:

• WHIM syndrome is a rare primary immunodeficiency characterized by warts, hypogammaglobulinemia, infections, and myelokathexis.
• Pathophysiology involves an autosomal dominant CXCR4 gain-of-function mutation, impairing neutrophil migration and leading to myelokathexis in the bone marrow.
• Despite neutropenia, the clinical presentation is often mild with associated abnormalities.

Observation:

• Diagnosis of WHIM syndrome is challenging due to phenotypic heterogeneity, with only ~105 cases documented.
• This report presents the first documented case of WHIM syndrome in a patient of African ancestry, diagnosed at age 29.
• The patient presented with a history of recurrent infections, bronchiectasis, hearing loss, and VSD repair, unexplained prior to neutropenia diagnosis.

Findings:

• The study identifies a novel case of WHIM syndrome in an underrepresented demographic.
• Highlights the diagnostic difficulties and the importance of comprehensive work-up for unexplained symptoms.
• WHIM syndrome, despite its complexities, demonstrates manageable clinical outcomes.

Implications:

• This case expands the known demographic of WHIM syndrome.
• Emphasizes the need for increased awareness and diagnostic vigilance for WHIM syndrome, particularly in diverse populations.
• Suggests that timely diagnosis and management, including G-CSF and CXCR4 antagonists, can lead to favorable outcomes.