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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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Your Question

My two girls have WHIMS and I need to know what kind of treatment they can get. We're willing to travel to seek treatment. Their WBC counts are 100-300. One has warts on her foot and the other has about 100 warts on each hand.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

Where can I find information about physicians and clinics that specialize in treating individuals with WHIM syndrome?

The National Primary Immunodeficiency Resource Center's Web site has a "Find an Expert" section with a listing of Referral Physicians across the world to help patients, family and friends locate a physician that is familiar with Primary Immunodeficiency (PI), and has a large PI patient base. Click here to search the listing.

The Immune Deficiency Foundation (IDF) maintains a database to help patients, family and friends locate a physician and their Web site has a "Locate a Physician" section. Click here to access this section.

Last updated: 11/14/2011

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