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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

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

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.
Your Questions Answered
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1 question(s) from the public on WHIM syndrome have been answered. See questions and answers. You can also submit a new question.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss WHIM syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • Hagan JB, Nguyen PL. WHIM Syndrome. Mayo Clin Proc. September 2007;82(9):1031.
  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
Other Names for this Disease
  • Warts, Hypogammaglobulinemia, Infections, and Myelokathexis
  • WHIMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.