LP111254-1
Severe combined immunodeficiency
Active
Description
Severe combined immunodeficiency (SCID), or Bubble Boy Syndrome, (also known as "Alymphocytosis," "Glanzmann-Riniker syndrome," "Severe mixed immunodeficiency syndrome," and "Thymic alymphoplasia" is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment. SCID is the effect of a highly compromised, so much it is almost considered absent, immune system. The gene mutations that cause SCID are not just for the disorder. The buildup of dATP, which induces the cell to make cytochrome c, destroys and signals for apoptosis in all rapidly proliferating cells. This includes cells in the GI tract, immune system lymphocytes, and sperm cells.
Chronic diarrhoea, ear infections, recurrent Pneumocystis jirovecii pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful Hematopoietic stem cell transplantation.
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Source: Wikipedia, Wikipedia
Basic Part Properties
- Part Display Name
- Severe combined immunodeficiency
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-11-23
- Construct for LOINC Short Name
- SCID
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Inmunodeficiencia combinada severa |
| it-IT | Italian (Italy) | Immunodeficienza combinata grave |
| tr-TR | Turkish (Turkey) | Ciddi kombine immun bozukluk |
| ru-RU | Russian (Russian Federation) | Тяжелый комбинированный иммунодефицит |
| nl-NL | Dutch (Netherlands) | ernstige gecombineerde immunodeficiëntie Synonyms: ernstige gecombineerde immunodeficientie |
| fr-BE | French (Belgium) | Immunodéficience combinée sévère |
| zh-CN | Chinese (China) | 严重联合免疫缺陷 Synonyms: 严重联合免疫缺陷病; |
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