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Genetic and Rare Diseases Information Center (GARD)

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WHIM syndrome

Other Names for this Disease
  • Warts, Hypogammaglobulinemia, Infections, and Myelokathexis
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How might WHIM syndrome be treated?

Early diagnosis and aggressive medical management are very important for individuals with WHIM syndrome. Treatment of the condition currently includes G-CSF (a medication that stimulates the production of neutrophils); intravenous immunoglobulins (IVIG) for hypogammaglobulinemia; prophylactic antibiotics to prevent infection; and aggressive surveillance for, and treatment of, skin and mucosal HPV-related lesions. The dose of G-CSF should be determined for each individual, and adjustments may be needed periodically. IVIG has been shown to be effective at decreasing risk of infections, and it has also been reported that the hypogammaglobulinemia may improve following treatment with G-CSF. The use of prophylactic antibiotics in individuals affected with WHIM has not been specifically studied, but the benefits have been assumed based on studies on other types of immunodeficiency disorders. Infections should be diagnosed and treated as soon as possible.[1]

A new study sponsored by the National Institute of Allergy and Infectious Diseases (NIAID) found that a drug called plerixafor, already approved by the Food and Drug Administration for use in patients undergoing a bone marrow transplant, may also have promise for treating people who have WHIM syndrome. Plerixafor blocks the activity of CXCR4 (which is increased in affected individuals) and may become a targeted therapy for WHIM syndrome.  To read more about this ongoing study, click here.
Last updated: 11/14/2011

  1. Kawai, Toshinaoa; Malech, Harry L. WHIM syndrome: congenital immune deficiency disease. Current Opinion in Hematology. January 2009; 16(1):20-26.

Clinical Trials & Research for this Disease

  • lists trials that are studying or have studied WHIM syndrome. Click on the link to go to to read descriptions of these studies.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
  • The National Institutes of Allergy and Infectious Diseases (NIAID) at the National Institutes of Health (NIH) is conducting a study titled "A Phase I Study of Mozobil in the Treatment of Patients with WHIMS" (Protocol no. 09-I-0200). To learn more about the study, you can contact the person listed below.

    Nana Kwatemaa, RN, MSN
    Telephone: 301-451-7820
    Fax: 301-451-5482