A diagnosis can provide answers
If you have questions about what could be causing your symptoms, a diagnosis could help give you answers
Confirming a WHIM syndrome diagnosis can be a challenge because:
- It is a rare type of primary immunodeficiency (PI)
- It shares signs and symptoms with other PIs
- It can have different signs and symptoms with a range of severity in people who have it, even within the same family
Genetic testing answered so many questions for me. Finally, I know what it is and I have a name for it now…and it makes life so much easier. -Kirsty
Different ways to recognize or diagnose WHIM syndrome:
Clinical evaluation
- Signs of WHIM syndrome such as recurring infections and warts
- Your medical history, your family's medical history
Bloodwork
- Low levels of certain infection-fighting white blood cells associated with WHIM syndrome
- Low levels of antibodies
Genetic testing
- Done using a simple cheek swab
- Looks for variations in the CXCR4 gene associated with WHIM syndrome
- Diagnose or rule out certain genetic conditions
There is a no-cost genetic testing option available; learn more about it here.
Bone marrow biopsy
- Looks for a high number of white blood cells called neutrophils trapped in the bone marrow, a condition found in all people with WHIM syndrome called myelokathexis
- Past biopsy results can be reviewed to look for myelokathexis
If you continue to experience infections even while on treatment or are still seeking answers about your immune deficiency, talk to your healthcare provider about WHIM syndrome.
The thing that led to my diagnosis was my mother getting a test done…the same symptoms she was experiencing and tested for were present in me and my sibling. -Willow
Lauren, Living With WHIM Syndrome
The importance of seeking a WHIM syndrome diagnosis as soon as possible
It is treatable
WHIM syndrome can be treated, so a confirmed diagnosis can help your healthcare team to tailor your treatment specifically for WHIM syndrome. Learn more about treatment options here.
It can lead to serious long-term health issues, including cancer
Researchers have found that the earlier WHIM syndrome is diagnosed, the better the outcomes for people living with it, such as lower rates of permanent organ damage and hospitalization.
It can run in families
Because WHIM syndrome is caused by a genetic variation, it can be inherited. If either parent has WHIM syndrome, there is a 50% chance that it will be passed down. A diagnosis may help identify other family members who have it.
Personal stories from people living with WHIM syndrome
Hear from Kirsty as she discusses the struggles she experienced living with unexplained recurring infections and how taking a genetic test gave her the answers she spent her life searching for.
See other stories here
An X4 Nurse Educator* who specializes in WHIM syndrome can help you and your family learn more about WHIM syndrome and how it is diagnosed.
*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.
This guide can help you prepare to talk to your healthcare provider about WHIM syndrome.
No-cost genetic testing is available for you and your family to help confirm a WHIM syndrome diagnosis and take a step toward getting answers.
*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.