You may have heard the term “personalized medicine.” This means your healthcare treatment is based on your genes and disease. It allows doctors to pick the right medicine at the right dose and the right time instead of giving the same treatment to everyone. For example, there are now many cancers that have targeted treatments that work best in people with certain genes.
Primary immunodeficiencies (PIDs) are also an area where there has been much progress in the last 10 years. There are more than 400 types of PIDs, such as neutropenia, some more severe than others.
In some cases, a patient with a mild PID may not find out that they have PID until adulthood. In other cases, the PID causes problems soon after birth and is diagnosed at an early age. Knowing your genetics can allow you and your care team to confirm your PID or your congenital neutropenia.
With a confirmed diagnosis, your treatment may be tailored. You may also be able to identify clinical trials that need volunteers who have your genetic variant or mutation to study a potential treatment that targets that genetic variant.
Genetic testing is used to find out which genes cause the specific disease. For example, WHIM (Warts, Hypogammaglobulinemia, Infections and Myelokathexis) syndrome is a rare primary immunodeficiency (PID) with severe neutropenia. Because people with WHIM syndrome are rare and do not always have the same symptoms, they can be hard to diagnose and may be misdiagnosed. For example, there are cases where people with WHIM syndrome have been misdiagnosed with common variable immune deficiency (CVID). Others may be misdiagnosed with autoimmune neutropenia. In cases of misdiagnosis, genetic testing can provide the correct diagnosis.
People can be diagnosed with WHIM syndrome using different tests, including clinical and bone marrow. A genetic test can help confirm the diagnosis of WHIM syndrome and will show a variant or mutation with the CXCR4 gene.