The diagnosis of TPP2 deficiency in childhood calls for surveillance of the hematologic and immunologic status of affected individuals. Correction of cytopenia’s, antibiotic prophylaxis, and immunoglobulin infusions may be indicated and have been applied successfully in some patients. Some TPP2 deficient patients have been treated by splenectomy, allogeneic hematopoietic stem cell transplantation (HSCT), or orthotopic liver transplantation with a high mortality rate (three of five). HSCT is the treatment with better outcome. However, HSCT does not seem to influence the neurologic phenotype of the disease. Without treatment, combined immunodeficiency and an autoimmune disorder will progress, increasing the risk of severe infections and severe autoimmunity complications, ranging from cytopenia’s to vasculitis and stroke.
Individuals presenting in adulthood with the multiple sclerosis-like phenotype seem not to have life-threatening complications but the number of patients described to date is very limited.
TPP2