Equine Severe Combined Immune Deficiency
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(Equine SCID)
- Autosomal recessive
- Occurs in 2-3% of Arabian foals
- Defect in DNA-dependent protein kinase gene
- Gene codes for a DNA repair enzyme involved in V(D)J recombination for antigen receptors of lymphocytes (e.g. Ig and TCR)
- No functional B cells or T cells
- Foals develop infections (usually around 8 weeks of age as maternal antibody in colostrum wanes around this time)
- Foals usually die from bronchopneumonia