Journal
CURRENT OPINION IN HEMATOLOGY
Volume 27, Issue 1, Pages 11-17Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOH.0000000000000554
Keywords
CXCR4; deafness; human papilloma virus-associated malignancies; lymphocytopenia; neutropenia; warts; hypogammaglobulinemia; immunodeficiency; myelokathexis syndrome
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Funding
- National Institutes of Health (NIH)
- National Institute of Allergy and Infectious Diseases (NIAID) [5R 24AI049393]
- gift X4 Pharmaceuticals
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Purpose of review WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, myelokathexis, or WHIMs) is a very rare autosomal dominant immunodeficiency disorder attributable to mutations inCXCR4. We reviewed clinical manifestations in 24 patients in 9 families to expand understanding of this syndrome. Recent findings Warts, cellulitis and respiratory infections are common in patients with WHIMs. Less commonly these patients have congenital heart disease, human papilloma virus-associated malignancies (cervical and vulvular) and lymphomas. Hearing loss because of recurrent otitis media is another important complication. Treatment with granulocyte colony-stimulating factor is controversial; this review indicates that it is effective to prevent and treat infections based upon long-term observations of patients enrolled in the Severe Chronic Neutropenia International Registry. Understanding the natural history and diversity of this syndrome are important for ongoing clinical trials of novel agents to treat WHIMs. WHIM syndrome has diverse manifestations; some features occur consistently in almost all patients, for example, neutropenia, lymphocytopenia and mild hypogammaglobulinemia. However, the clinical consequences are quite variable across patient cohorts and within families. Each complication is important as a cause for morbidity and a source for patient and family concerns.
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