Severe Combined Immunodeficiency (SCID) is a rare genetic disorder characterized by a severely compromised immune system. It is a condition in which the body's immune system is either absent or severely deficient, leaving individuals vulnerable to life-threatening infections.
SCID is typically diagnosed early in life, often within the first few months, as affected infants are highly susceptible to recurrent, severe infections. Common symptoms include persistent thrush (oral fungal infection), chronic diarrhea, failure to thrive, and frequent respiratory tract infections. Children with SCID are highly vulnerable to common viruses, bacteria, and fungi that do not typically cause severe illness in individuals with healthy immune systems.
The genetic cause of SCID varies, with several different gene mutations associated with the disorder. These mutations can disrupt the development or function of immune cells, leading to the absence or impairment of key components of the immune system.
Treatment for SCID usually involves a bone marrow transplant or gene therapy, aiming to replace or repair the defective immune system. In some cases, enzyme replacement therapy or medication to boost the immune system may be used to manage the condition.
If left untreated, SCID is typically fatal within the first year of life due to severe infections. However, early diagnosis and appropriate interventions have drastically improved outcomes, allowing affected individuals to lead relatively normal lives with proper medical management.
