Severe Combined Immunodeficiency (SCID) is a group of rare, life-threatening genetic disorders that affect the immune system. It is characterized by a severely weakened or nearly absent immune response, leaving affected individuals highly susceptible to infections. SCID is sometimes referred to as the “bubble boy disease” due to the case of David Vetter, who lived in a sterile environment to avoid infections.
SCID is caused by mutations in various genes, leading to different forms of the disorder. These mutations primarily affect the development and function of T cells, B cells, and sometimes NK cells – all of which are crucial for a healthy immune system. Symptoms of SCID often appear during infancy, with recurrent infections, failure to thrive, and chronic diarrhea being common signs. Early diagnosis and treatment are crucial for improving the chances of survival.
Early diagnosis and intervention are crucial for improving the outcome of individuals with SCID. Newborn screening programs for SCID have been implemented in many countries to facilitate early detection and treatment.