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Severe combined immundeficiency (SCID) is a group of genetic disorders resulting in a non-functional adaptive immune system and could lead to death.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Severe combined immundeficiency (SCID) is a group of genetic disorders resulting in a non-functional adaptive immune system and could lead to death. The disease is caused by T-and B-lymphocyte dysfunction. In addition, the disease is caused by a mutation in the RAG1.
Clinical features
Clinical features are diarrhea, development of epileptic seizures and vestibular ataxia.
Additional information
References
Pubmed ID: 21293384
Omia ID: 1574