Could it be WHIM syndrome?
What to look for
A diagnosis for WHIM syndrome is often missed because it can be hard to identify:
- Symptoms can be similar to other immunodeficiencies like CVID (common variable immunodeficiency) and common neutropenias like chronic neutropenic disorder.
- Symptoms vary from person to person, even within the same family.
The Signs and Symptoms of WHIM Syndrome
Ear infections, permanent hearing loss
Dental issues, such as gingivitis
Sinus infections, lung infections, such as pneumonia, permanent lung damage
Impaired immune system function:
- Neutropenia
- Lymphopenia
- Hypogammaglobulinemia
Genital warts, HPV, cancer
Skin infections, such as cellulitis, warts
Frequent infections that:
- May be bacterial or viral
- May be treated at home or require hospitalization
- Could result in organ damage
- Could be life-threatening
If you have experienced any combination of these, it could be WHIM syndrome. A genetic test using a simple cheek swab can help you find answers.
For more information about WHIM syndrome
Download the PatientEducation Guide
Bloodwork findings your doctor should be looking for
Low levels of infection-fighting white blood cells called neutrophils (neutropenia—the most common) and lymphocytes (lymphopenia)
Low levels of antibodies (hypogammaglobulinemia)
These are all important components of the immune system, so when levels are low, it causes an immune deficiency that makes it hard for the body to fight infections.
I had recurrent warts growing up, and I wanted them off my hands for my wedding. My doctor took one look at my hands and said that there’s something wrong with your immune system. -Lauren
Lauren, Living With WHIM Syndrome
Warts are not always present in WHIM syndrome
While not everyone with WHIM syndrome will have warts, if you do and also have an immune deficiency, it could be a sign of the condition.
Let your healthcare provider know if you have a history of or currently have warts, including any that are not in a visible location, because they may factor into your diagnosis.
This guide can help you prepare to talk to your healthcare provider about WHIM syndrome and the symptoms you may be experiencing.
An X4 Nurse Educator* who specializes in WHIM syndrome can help you and your family learn more about WHIM syndrome and its many signs and symptoms.
Share the 10 Warning Signs of WHIM fact sheet with your healthcare provider to talk about diagnosis.
*X4 Nurse Educators are employees of X4 Pharmaceuticals and do not work under the direction of a healthcare professional; they do not offer medical or treatment-related advice. For treatment and medical questions, you should contact your healthcare provider.