MAC inhibitor (CD59) deficiency

Patients have recurrent hemolytic anemia, thrombosis and recurrent cerebral infarctions. Studies of four GPI-anchored proteins which are typically lost in paroxysmal nocturnal hemoglobinuria revealed normal levels of all except for CD59. CD59 was absent from the surface of his erythrocytes and fibroblasts. Erythrocytes are highly susceptible to complement-mediated lysis.

Therapeutic options