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 predominantly 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 typically treated for their symptoms. There are no existing treatments that specifically target the underlying cause of WHIM syndrome—new treatments are needed.
A diagnosis of WHIM syndrome may 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 may provide answers to questions you may have about your diagnosis, treatment, and the potential impact to your family. A genetic test may help confirm the diagnosis of WHIM syndrome and may 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 indicated for WHIM syndrome, health care professionals may be able to recommend better care for symptoms to improve overall health.
Family Planning
Genetic testing can be a helpful part of family planning, whether you are starting or growing your family. Carrier, or reproductive, testing looks at the genetic variants or mutations of the biological mother and father to help people make choices with their doctors before getting pregnant.
PATH4WARD is a no-charge genetic testing program sponsored by X4 Pharmaceuticals in partnership with Invitae, intended to help diagnose patients suspected of having a congenital neutropenic disorder or a primary immunodeficiency (PID), including WHIM syndrome. The program includes genetic counseling for patients and/or clinicians, as well as family variant testing when applicable.
*For U.S. Healthcare Professionals only
Visit What If It’s WHIM? to learn more
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