WHIM syndrome is a rare and difficult-to-diagnose primary immunodeficiency in which the body’s immune system does not function properly and has trouble fighting infections, especially respiratory, ear, and skin infections.
Some doctors also call primary immunodeficiencies inborn errors of immunity, which are genetic mutations that cause immunodeficiencies. WHIM syndrome is caused by mutations in the CXCR4 gene which causes white blood cells to get trapped in the bone marrow.
WHIM syndrome was named after four symptoms: Warts, Hypogammaglobulinemia, Infections, Myelokathexis. Not all people with WHIM syndrome have all four symptoms, which can make diagnosis difficult, and symptoms may impact different parts of the body.
People living with WHIM syndrome are treated for their symptoms. There are no existing treatments that specifically target the underlying problem of WHIM syndrome—new treatments are needed.
A diagnosis of WHIM syndrome can be confirmed with a genetic test. There are several reasons why a confirmed diagnosis of WHIM syndrome may be helpful:
Confirm a Diagnosis
If you are living with or believe you may have WHIM syndrome, genetic testing can provide answers to questions you may have about your diagnosis, treatment, and the health of your family. A genetic test can help confirm the diagnosis of WHIM syndrome and will show a variant or mutation in the CXCR4 gene.
Improve Outcomes
Researchers have found that the earlier WHIM syndrome is diagnosed, the better the outcomes for people living with it. Although there are no treatments specifically for WHIM syndrome, health care professionals may be able to recommend better care for symptoms to improve overall health.
Identify Clinical Trials
Genetic testing may also help identify what clinical trials may be available based on the type of genetic mutation that is identified.
PATH4WARD is a no-cost genetic testing program available through X4 Pharmaceuticals that looks at multiple genes associated with primary immunodeficiencies, including WHIM syndrome.
Many people living with WHIM syndrome had frequent infections as children and were often misdiagnosed for many years. Those who are diagnosed sooner often have better outcomes. The symptoms and severity may differ widely, but one thing everyone has in common is hope for the future. See their stories here.
Researchers are studying potential treatments for WHIM syndrome.
Several patient groups are committed to supporting people living with WHIM syndrome.
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