Severe combined immunodeficiency: what is the famous “bubble boy syndrome”?
Severe combined immunodeficiency is a group of hereditary diseases of the immune system characterized by abnormalities in the functions of T lymphocytes and B lymphocytes.
TL;DR
- SCID is a group of hereditary immune system diseases characterized by abnormalities in T and B lymphocyte functions.
- Symptoms include increased risk of ear, lung, and bronchial infections, oral thrush, and diarrhea.
- The disease, known as 'bubble boy disease,' gained public awareness from the story of David Vetter.
- Diagnosis in the first year of life may include recurrent infections, failure to thrive, and persistent infections.
- The standard treatment has been bone marrow transplantation, ideally from a compatible sibling.
- A gene therapy trial initiated in 2017 aims to repair stem cells instead of replacing them.
- Up to 100 babies are born with SCID annually in the US, caused by over 20 genetic defects.
- A recent study shows 62 infants treated with gene therapy survived eight years, offering new hope.