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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 18 |
| Mutation | c.2893G>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | T-B-NK +, SCID, SCID2 |
Informations générales
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.
Caractéristiques cliniques
Les dispositifs cliniques sont diarrhée, développement des accès épileptiques et ataxie vestibulaire.
Additional Information
Références
Pubmed ID: 21293384
Year published: 2011
Omia ID: 1574
Omia variant ID: 284