WHIM Syndrome Genetic Testing

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

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.

Genetic testing is the only way to rule in or rule out WHIM syndrome for patients suffering from low/extremely low white blood cell counts and frequent infections. The specific genetic test, CXCR4 is used to determine if the individual has a defective gene, it is not a full genetic test. Only physicians can recommend and/or order this specific genetic test.

The Jeffrey Modell Foundation (JMF), a non-profit organization for primary immunodeficiency diseases, and X4 Pharmaceuticals co-sponsored a genetic screening study to help identify patients who have WHIM syndrome, at no cost to patients or insurance.

The genetic study will evaluate up to 300 patients, representing one of the largest WHIM syndrome genetic screening studies to date. Identification through genetic screening is a crucial step forward in patients care and a key to shortening a WHIM syndrome patient’s path to diagnosis; hopefully enabling individuals living with WHIM syndrome to access more effective treatments in the future.

CXCR4 genetic testing is also available at cost through other commercial or research laboratories.

For Physicians



  • 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.

X4 Pharmaceuticals does not review or control the content on the website to which this hyperlink connects and this hyperlink does not constitute an endorsement by X4 Pharmaceuticals of the content of any non-X4 Pharmaceuticals website.