Severe Combined Immunodeficiency Disease (SCID)
Severe Combined Immunodeficiency Disease (SCID)
Discussion
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.
Genetics
Inheritance
AR
OMIA
000220
OMIA Variant
000283
OMIA URL
https://www.omia.org/OMIA000220/9615/
OMIN
600899
Gene
PRKDC
Variants
c.10879G>T; p.(E3627*); g.32195051del
Variants Comments
nonsense (stop-gain)
Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
Direct Mutation
Connections
- Updated