Genetic Test
The IL2RG (Interleukin 2 Receptor Subunit Gamma) gene encodes a protein that is a critical component of the interleukin receptor complex involved in immune signaling.
This protein plays a vital role in the development and function of immune cells by mediating cytokine signaling.
The PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) gene encodes an enzyme responsible for repairing DNA double-strand breaks and facilitating DNA recombination.
This enzyme is essential for maintaining genomic stability and proper immune system development.
Mutations in these two genes are associated with severe combined immunodeficiency (SCID), a life-threatening disorder characterized by profound defects in both humoral and cellular immunity.
This genetic test targets specific mutations in the IL2RG and PRKDC genes linked to SCID.
Disease Description
Severe combined immunodeficiency (SCID) is a serious, inherited autoimmune disorder characterized by an inability to resist infections caused by bacteria, fungi, or parasites.
During early life, affected puppies rely on maternal antibodies for immune protection, but they cannot produce their own antibodies.
Once maternal antibodies wane, these puppies become highly vulnerable to infections and immune system failure.
SCID is currently considered incurable, and antibiotic treatments have shown limited success in improving symptoms.
Because SCID is caused by mutations on the X chromosome, male puppies are more commonly affected, while female dogs often act as carriers, passing the defective gene to their offspring.
