Severe combined immunodeficiency (SCID) is a rare genetic disorder characterized by a severely compromised immune system. It is estimated that SCID affects approximately 1 in every 58,000 to 100,000 births worldwide. This prevalence may vary across different populations and regions.
SCID is often diagnosed in infancy, as affected infants are highly susceptible to severe and recurrent infections. Without early intervention, these infections can be life-threatening. The condition is caused by mutations in genes responsible for the development and function of immune cells, particularly T cells and B cells. As a result, individuals with SCID have a severely impaired ability to fight off infections.
Early detection and treatment are crucial for individuals with SCID. Hematopoietic stem cell transplantation (HSCT) is the primary treatment option, where healthy stem cells are transplanted to restore immune function. Gene therapy is also being explored as a potential treatment approach.
While SCID is considered a rare disorder, advancements in genetic testing and newborn screening programs have improved early detection rates. Timely diagnosis and appropriate interventions are essential for improving outcomes and quality of life for individuals with SCID and their families.