Severe Combined Immunodeficiency

Severe Combined Immunodeficiency (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 severe abnormalities of the immune system's ability to function. This condition is the most severe form of primary immunodeficiency.

Symptoms

The symptoms of SCID are usually noticeable in the first year of life. Infants with this condition are susceptible to recurrent and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.

Causes

SCID is caused by mutations in different genes involved in the development and function of immune cells. The most common type is X-linked SCID, which is caused by mutations in the IL2RG gene and affects only males.

Diagnosis

Diagnosis of SCID is based on clinical findings (severe recurrent infections, failure to thrive), abnormal lymphocyte count and function, and genetic testing.

Treatment

The treatment of SCID involves protecting the person from infection, treating the infections that do occur, and correcting the immune defect. The best treatment option is Hematopoietic stem cell transplantation (HSCT), which can cure the disorder if performed in the first few months of life.

Prognosis

Without treatment, children with SCID usually die before the age of two due to severe, recurrent infections. However, with early diagnosis and treatment, many individuals with SCID can live relatively normal lives.

See also

• Primary immunodeficiency
• Immunodeficiency
• Gene therapy

References

Severe Combined Immunodeficiency Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.

Translate to: East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski