Congenital neutropenia consists of a heterogeneous group of rare hematological diseases characterized by a selective decrease in circulating neutrophils, impaired maturation or trafficking, and higher risk of recurrent severe infections.1
Congential neutropenia is a rare condition: its prevalence is estimated to be between 3 and 8.5 cases per million individuals. Genetic diagnosis is the best way to confirm the diagnosis, understand the disease, and determine possible treatment options in patients with chronic neutropenia.
One example of congenital neutropenia associated with primary immunodeficiency is WHIM syndrome, a rare, autosomal dominant primary immunodeficiency disease caused by mutations in the CXCR4 gene leading to abnormal immune cell trafficking. Patients affected with WHIM may present with Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. In addition, patients may experience frequent upper respiratory tract and systemic infections, often beginning in infancy and leading to life-threatening complications. Potentially fatal infections, such as meningitis and sepsis have been reported. Some patients with WHIM are at a higher risk for EBV-associated T and B cell lymphoproliferative disease and lymphoma. In addition, patients have an increased risk of malignancy due to human papillomavirus (HPV) transformation, leading to carcinoma.
Primary immunodeficiencies are a group of inherited disorders of the immune system including congenital neutropenia and WHIM syndrome.
Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene tests today.
X4 is focused on restoring healthy immune system function by developing novel therapeutics for the treatment of rare diseases.
Our first-in-class, oral, small molecule therapeutics are antagonists of chemokine receptor CXCR4, which have the potential to treat a broad range of rare diseases, including primary immunodeficiencies (PIs) and cancer. A number of PIs are attributed to the improper trafficking of immune cells related to the CXCR4 receptor and its ligand CXCL12.
X4 is a global company that is headquartered in Boston, Massachusetts with research offices based in Vienna, Austria. For more information, please visit www.x4pharma.com