WHIM Genetic Background

WHIM syndrome is a rare, autosomal dominant primary immunodeficiency disease caused by a mutation in the CXCR4 gene leading to abnormal immune cell trafficking. (WHIM is derived from Warts, Hypogammaglobulinemia, Infections, and Myelokathexis). For more information about WHIM syndrome, visit About WHIM Syndrome.

WHIM syndrome is an autosomal dominant inherited disorder, so people are born with it. If a child inherits the abnormal gene from only one parent, the child can get the disease.

  • A parent with an autosomal dominant condition has a 50% chance of having a child with the condition
  • Children who do not inherit the abnormal gene will not develop or pass on the disease


  • Heusinkveld LE, et al. Expert Opin Orphan Drugs. 2017;5(10):813-825.
  • Bachelerie F. Dis Markers. 2010;29(3-4):189-198.
  • Al Ustwani O, et al. Br J Haematol. 2014;164(1):15-23.
  • Dotta L, et al. Curr Mol Med. 2011;11(4):317-325.

Sometimes, this disease can also occur as a new condition in a child caused by a spontaneous mutation when neither parent has the abnormal gene.

WHIM syndrome is an ultra-rare disease, and the number of people that have it is unknown. Since severe chronic low white blood cell counts are the primary laboratory finding for not only WHIM syndrome but also so many common diseases, it is believed that WHIM syndrome is underdiagnosed.


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