Severe combined immunodeficiency
Severe Combined Immunodeficiency (pronunciation: /sɪˈvɪər kəmˈbaɪnd ˌɪmjuːnəʊdɪˈfɪʃənsi/), often abbreviated as SCID, is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in differing clinical presentations. SCID is the most severe form of primary immunodeficiencies.
Etymology
The term "Severe Combined Immunodeficiency" is derived from the severity of the condition, the combination of affected immune cell types, and the deficiency in the immune system's response.
Symptoms
Patients with SCID present with susceptibility to severe and recurrent infections including bacterial infections, viral infections, and fungal infections. Other symptoms may include failure to thrive, chronic diarrhea, and skin rashes.
Causes
SCID is caused by mutations in different genes that are critical for the development and function of infection-fighting immune cells. The most common type is X-linked SCID, which is caused by mutations in the IL2RG gene.
Diagnosis
Diagnosis of SCID is based on clinical presentation, family history, and laboratory testing of immune function. Genetic testing can confirm the diagnosis.
Treatment
Treatment for SCID can include antibiotics, antivirals, and antifungals to prevent and treat infections, immunoglobulin therapy to boost the immune system, and stem cell transplant to replace the defective immune system.
Prognosis
Without treatment, children with SCID usually die within the first year of life. However, with early diagnosis and treatment, many individuals with SCID can live relatively normal lives.
See also
External links
- Medical encyclopedia article on Severe combined immunodeficiency
- Wikipedia's article - Severe combined immunodeficiency
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