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N Engl J Med. 2019 Jan 10;380(2):163-170. doi: 10.1056/NEJMoa1808575.

Plerixafor for the Treatment of WHIM Syndrome.

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From the Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (D.H.M., D.V., E.C., Q.L., P.M.M.), the Laboratories of Cellular Oncology (D.V.P., C.B.B.) and Pathology (S.P.), National Cancer Institute, the Department of Laboratory Medicine, Clinical Center (K.R.C.), the National Institute of Dental and Craniofacial Research (P.J.G.), and the National Institute on Deafness and Other Communication Disorders (D.A.B.), National Institutes of Health, and Kozloff and Trout MDs (H.H.T.), Bethesda, MD; the Infectious Diseases Unit and Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Pediatric University Hospital (J.F.N.), and Centro de Imunodeficiências Primárias, Academic Medical Center of Lisbon (S.L.S.), Lisbon, Portugal; and the University of Chicago Medical Center, Chicago (E.A.B., E.M.L.).


WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), a primary immunodeficiency disorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4). Myelokathexis is neutropenia caused by neutrophil retention in bone marrow. Patients with WHIM syndrome are often treated with granulocyte colony-stimulating factor (G-CSF), which can increase neutrophil counts but does not affect cytopenias other than neutropenia. In this investigator-initiated, open-label study, three severely affected patients with WHIM syndrome who could not receive G-CSF were treated with low-dose plerixafor, a CXCR4 antagonist, for 19 to 52 months. Myelofibrosis, panleukopenia, anemia, and thrombocytopenia were ameliorated, the wart burden and frequency of infection declined, human papillomavirus-associated oropharyngeal squamous-cell carcinoma stabilized, and quality of life improved markedly. Adverse events were mainly infections attributable to the underlying immunodeficiency. One patient died from complications of elective reconstructive surgery. (Funded by the National Institutes of Health.).

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