Severe combined immunodeficiency (SCID) is a rare genetic disorder characterized by a severely compromised immune system. It is often referred to as "bubble boy disease" due to the need for affected individuals to live in a highly sterile environment to avoid infections. SCID is caused by mutations in genes responsible for the development and function of immune cells.
Individuals with SCID have a weakened or absent immune response, making them highly susceptible to infections from bacteria, viruses, and fungi. Even mild infections can become life-threatening. Common symptoms include recurrent and severe infections, failure to thrive, and poor growth.
Early diagnosis is crucial for SCID, as prompt treatment can improve outcomes. Treatment options include stem cell transplantation, gene therapy, and enzyme replacement therapy. These interventions aim to restore the immune system's function and provide long-term protection against infections.
Research and advancements in medical technology have improved the prognosis for individuals with SCID, allowing them to lead relatively normal lives with appropriate management and precautions.