Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency

Despite the addition of mycophenolate mofetil, sirolimus, tacrolimus, cyclosporine, and mercaptopurine, the cytopenia and lymphoproliferation persisted. Because of growth failure secondary to chronic corticosteroid treatment, HSCT was considered at the age of 3 years. Immunoreconstitution at day 360 was excellent, including normal antibody levels, normal numbers of B- and T-lymphocytes, and normal T-cell proliferation in response to PHA. [...]response to polysaccharide vaccine was normal (data not shown).