Interleukin-2-dependent T lymphocytes for the diagnosis and investigation of inherited metabolic disorders

Interleukin-2-dependent T cell lines can be started from as little as 1 ml of peripheral blood and expanded to 50 × 10 6 cells within 12 days. These cells represent an easily obtainable source of nucleated tissue with certain advantages over skin fibroblasts or transformed B lymphoblastoid cells for the rapid diagnosis and study of inherited metabolic disorders. A panel of 19 enzymes were assayed in IL-2-dependent T lymphocytes and the diagnosis of four enzyme deficiencies is demonstrated using T lymphocytes.