Could it be WHIM Syndrome?
It can be difficult to get the right diagnosis.
WHIM Syndrome is a rare and difficult-to-diagnose primary immunodeficiency (PI) in which the body’s immune system does not function properly and has trouble fighting infections, especially respiratory, ear, and skin infections.1 It is caused by mutations in the CXCR4 gene which traps white blood cells in the bone marrow.1
People living with WHIM Syndrome do not always have the same symptoms, so it can be hard to get the right diagnosis. Making a correct diagnosis can change the course of treatment and outcome for patients.
- There are cases where people with WHIM Syndrome have been misdiagnosed with common variable immune deficiency (CVID).2
- Others with WHIM Syndrome may be misdiagnosed with autoimmune neutropenia or only diagnosed with neutropenia.
Most Common WHIM Syndrome Signs & Symptoms
WHIM Syndrome was named after four signs and symptoms: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. Not all people with WHIM Syndrome have all four signs and symptoms, which can make diagnosis difficult, and symptoms may impact different parts of the body.
Other commonly reported signs and symptoms include:
- Recurrent respiratory tract infections
- Frequent ear infections
- Bronchiectasis (the walls of the bronchi are thickened from inflammation and infection)
- Skin infections1
Have you confirmed your PI with genetic testing?
Genetic tests have increased the ability of doctors to diagnose many types of PIs, including WHIM Syndrome and neutropenia, through the identification of genetic variants or mutations. In turn, researchers and doctors have then been able to discover treatments that target these specific PIs and neutropenia. If you are living with a PI including neutropenia, there may be a targeted treatment available now or clinical trials to study treatments that need volunteers like you. Research is giving many people living with WHIM hope for the future. Speak with your doctor about getting a no-cost genetic test from the PATH4WARD program.
1. Kawai T, Malech HL. "WHIM syndrome: congenital immune deficiency disease." Curr Opin Hematol. 2009;16(1):20-26. doi:10.1097/MOH.0b013e32831ac557
2. Heusinkveld LE, Majumdar S, Gao JL, McDermott DH, Murphy PM. "WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure." J Clin Immunol. 2019;39(6):532-556. doi:10.1007/s10875-019-00665-w
WHIM Syndrome Stories
Many people living with WHIM Syndrome had frequent infections as children and were often misdiagnosed for many years. The symptoms and severity may differ widely, but one thing everyone has in common is hope for the future. See their stories here.
Thank you to X4 Pharmaceuticals, Inc. for their support of this page