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Severe Combined Immunodeficiency Disease (SCID) RAG1 related

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Severe Combined Immunodeficiency Disease (SCID) RAG1 related
Mutation
c.2893G>T
Test Type
Genetic Disease/Disorder
Details
Severe combined immunodeficiency (SCID) is a devastating autoimmune disease. SCID is a rare immune disorder characterized by the inability to fight recurrent systemic or localized infections of the eye, ear or respiratory system. Symptoms include: diarrhea, unsteadiness, blindness, and seizures. Age of onset birth, with death by 12 weeks. In some cases, puppies manage to survive up to 6 months.
Details 2
Severe combined immunodeficiency (SCID) is a devastating autoimmune disease. SCID is a rare immune disorder characterized by the inability to fight recurrent systemic or localized infections of the eye, ear or respiratory system. Symptoms include: diarrhea, unsteadiness, blindness, and seizures. Age of onset birth, with death by 12 weeks. In some cases, puppies manage to survive up to 6 months.
Published
Verfuurden, B., Wempe, F., Reinink, P., van Kooten, PJ., Martens, E., Gerritsen, R., Vos, JH., Rutten, VP., Leegwater, PA. : Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun 12:310-3, 2011. Pubmed reference: 21293384. DOI: 10.1038/gene.2011.6.
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