Severe combined immunodeficiency synonyms
What other names are the Severe combined immunodeficiency known by? Synonyms and other terms with which Severe combined immunodeficiency is known.
Severe combined immunodeficiency (SCID) is a rare genetic disorder characterized by a profound deficiency in the immune system. It is often referred to as "bubble boy disease" due to the extreme vulnerability of affected individuals to infections. SCID is caused by mutations in genes responsible for the development and function of immune cells, particularly T cells and B cells.
SCID is a life-threatening condition that typically presents in infancy. Infants with SCID are highly susceptible to recurrent and severe infections, which can be caused by even the mildest pathogens. Common symptoms include persistent diarrhea, chronic skin rashes, failure to thrive, and frequent respiratory infections. Without prompt diagnosis and treatment, SCID can be fatal within the first year of life.
There are several subtypes of SCID, each with its own specific genetic cause. Some of the most common forms include X-linked SCID, caused by mutations in the IL2RG gene, and ADA-SCID, caused by mutations in the ADA gene. Other forms of SCID result from mutations in genes such as JAK3, RAG1, or RAG2.
Early detection of SCID is crucial for effective management and treatment. Newborn screening programs have been implemented in many countries to identify infants with SCID before symptoms appear. This allows for early intervention, such as hematopoietic stem cell transplantation (HSCT) or gene therapy, which can restore immune function and improve long-term outcomes.
In summary, severe combined immunodeficiency (SCID) is a rare genetic disorder that severely impairs the immune system. It is often referred to as "bubble boy disease" due to the extreme vulnerability of affected individuals to infections. Early diagnosis and appropriate treatment are essential for improving the prognosis of individuals with SCID.
