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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.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 18 |
| Mutation | c.2893G>T |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | T-B-NK +, SCID, SCID2 |
Información específica de la prueba
Severe combined immundeficiency (SCID) is a group of genetic disorders resulting in a non-functional adaptive immune system and could lead to death. This specific variant is found in the Wetterhoun and is caused by a mutation in the RAG1 gene, leadint to T-and B-lymphocyte dysfunction.
Características clínicas
Las características clínicas son diarrea, desarrollo de crisis epilépticas y ataxia vestibular.
Información adicional
Referencias
Pubmed ID: 21293384
Year published: 2011
Omia ID: 1574
Omia variant ID: 284