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Diseases

Genetic and Rare Diseases Information Center (GARD)

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WHIM syndrome


Other Names for this Disease
  • Warts, Hypogammaglobulinemia, Infections, and Myelokathexis
  • WHIMS
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Overview



What is WHIM syndrome?

How might WHIM syndrome be treated?


What is WHIM syndrome?

WHIM syndrome is an acronym for a rare immunodeficiency disorder with each letter representing a predominant feature of the condition: (W) = warts; (H) = hypogammaglobulinemia; (I) = infections; and (M) = myelokathexis (retention of neutrophils in the bone marrow). Symptoms usually begin in early childhood with recurrent bacterial infections such as respiratory infections and cellulitis. In later childhood, individuals develop widespread warts that often become persistent despite treatments that are normally effective. Warts that involve the genital area may eventually cause cancer. It is caused by mutations in the CXCR4 gene and is inherited in an autosomal dominant manner. Treatment may include medications that replace antibodies (intravenous immunoglobulin) or increase the number of neutrophils; vaccinations; and prophylactic antibiotics to reduce the risk of infections.[1][2]
Last updated: 11/13/2011

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.[3]

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

References
  1. DH McDermott, M.D., National Institutes of Allergy and Infectious Diseases, personal communication, August 2009 .
  2. George Diaz, Virginia Gulino. Whim syndrome. Orphanet Encyclopedia. June 2004; http://www.orpha.net/data/patho/GB/uk-Whim.pdf. Accessed 11/13/2011.
  3. Kawai, Toshinaoa; Malech, Harry L. WHIM syndrome: congenital immune deficiency disease. Current Opinion in Hematology. January 2009; 16(1):20-26.