Severe Combined Immunodeficiency

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Severe Combined Immunodeficiency (pronunciation: /sɪˈvɪər kəmˈbaɪnd ˌɪmjʊnəʊdɪˈfɪʃənsi/) 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.

Etymology

The term "Severe Combined Immunodeficiency" (SCID) is derived from the severity of the condition, the combination of affected immune cells, and the deficiency in the immune response.

Related Terms

  • Immunodeficiency: A state where the immune system's ability to fight infectious disease and cancer is compromised or entirely absent.
  • T cells: A type of white blood cell that is of key importance to the immune system and is at the core of adaptive immunity, the system that tailors the body's immune response to specific pathogens.
  • B cells: A type of white blood cell that produces antibodies against antigens.
  • Genetic disorder: A genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital).

Symptoms

Symptoms of SCID include serious recurrent infections, failure to thrive, and the absence of a thymic shadow on chest X-ray. Without treatment, patients with SCID usually die from infections before the age of two years.

Diagnosis

Diagnosis of SCID is made by genetic testing, complete blood count, and immune function tests.

Treatment

Treatment for SCID can include Bone marrow transplant, Gene therapy, and Enzyme replacement therapy.

See Also

External links

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