Equine Severe Combined Immune Deficiency

(Equine SCID)



Description

Severe combined immunodeficiency disease (SCID) of horses is an autosomal, recessive hereditary disease occurring in 2-3% of Arab or cross-bred Arab foals. It is characterised by a complete absence of functional B and T lymphocytes and affected (homozygous) foals fail to produce antigen-specific immune responses.

Signalment

Only Arab or cross-bred Arabs are affected.

  • 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