Companies Announce Plan to Offer Free Genetic Tests for Patients With Suspected WHIM Syndrome or Severe Congenital Neutropenia

According to a story from Business Wire, the biopharmaceutical company X4 Pharmaceuticals, Inc. and the medical genetics company Invitae Corporation have recently announced that they have come into a parternship that will allow them to provide free genetic testing to patients suspected of having WHIM syndrome or severe congenital neutropenia, two forms of rare, inherited, primary immunodeficiency. 

The initiative will be conducted through a program known as PATH4WARD. Access to this testing could allow for much more rapid diagnosis of these disorders. 

About WHIM Syndrome

WHIM syndrome (which stands for Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis) is a rare heritable disorder of immunodeficiency. The syndrome is caused by mutations affecting the CXCR4 gene. Patients are particularly vulnerable to viral and bacterial infections of many kinds. Infection by the human papilloma virus causes warts to appear on both the hands and feet early in life. Most patients have deficient levels of lymphocytes and IgG antibodies. To learn more about WHIM syndrome, click here.

About Severe Congenital Neutropenia

Severe congenital neutropenia (also known as Kostmann syndrome) is a disorder that causes a deficiency in the number of neutrophils, which are among the most common type of white blood cell and a play a critical role in the immune system. There are several different types that are distinguished by which mutation causes them. The primary symptom is severe infections, often life threatening, that can appear as early as the first month of life. Most patients are treated with granulocyte colony stimulating factor, which can increase neutrophil production; however, this increases the risk of blood cancers such as lymphoma later in life. To learn more about severe congenital neutropenia, click here.

This initiative should come as a major boost for patients that are affected by these forms of primary immunodeficiency. While the program will provide free testing for individuals suspected of having one of these diseases, the program will also offer genetic counseling and family variant testing to all blood relatives of a patient that is diagnosed as a result of testing.

Patients that are presenting with primary immunodeficiency-like symptoms but test negative for severe congenital neutropenia or WHIM syndrome will also get access to a more extensive, far reaching test that will account for other forms of primary immundeficiency as well. 


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