TPP2 deficiency is due to mutations in the two copies (maternal and paternal) of the TPP2 gene. Both parents are healthy carriers of the disease. Not enough TPP2 protein in the body leads to immune dysregulation. On one hand, TPP2 deficient patients are not able to protect the body from unwanted bacteria and virus, and on the other hand, the immune system overreact to body’s healthy tissues attacking them.
TPP2