Peripheral blood of ALPS patients with elevated B12 and controls were evaluated.
Total and holo-haptocorrin (HC) levels were 26- and 23-fold higher in ALPS patients, respectively. No abnormal B12-binding proteins were found. Western blot revealed HC in lymphocyte lysates only from ALPS patients.
Elevated concentrations of B12 found in ALPS patients were due to increased lymphocyte expression of HC.