Donor lymphocyte infusion post-non-myeloablative allogeneic peripheral blood stem cell transplantation for chronic granulomatous disease

Chronic granulomatous disease (CGD) is a primary immunodeficiency disease s ymptomized by failure to generate superoxide and recurrent bacterial and fu ngal infections. Allogeneic bone marrow transplantation (BMT) is one of the therapeutic options available, However, it presents considerable risk to t he recipient, especially if the patient is already at an advanced stage of disease, after repeated bacterial and fungal infections and organ damage. W e present a case report of a 6-year-old child with long-standing CGD, sever e clubbing, and jeopardized pulmonary function after multiple bacterial pul monary infectious episodes, who had failed treatment with sulphamethazole t rimethoprim, multiple antibiotic courses, itraconazole, as well as steroid and interferon-gamma therapy, He underwent allogeneic peripheral blood stem cell transplantation (alloPBSCT) from his HLA-matched MLC non-reactive sis ter following non-myeloablative conditioning. His ANC did not fall below 0. 2 x 10(9)/l, his lowest WBC was 0.6 x 10(9)/l, and his platelets did not fa ll below 28 x 10(9)/l, He had normal engraftment, with no mucositis or orga n toxicity, Neither parenteral nutrition nor platelet infusions were necess ary, Partial donor chimerism following alloPBSCT was converted to full dono r chimerism and superoxide production reverted to normal after donor lympho cyte infusions (DLI) from his HLA-matched sister, Twenty four months post t ransplant the patient is well, with stable and durable engraftment, 100% do nor chimerism, normal superoxide production, no GVHD, and stabilization of his pulmonary condition, We suggest that alloPBSCT preceded by non-myeloabl ative conditioning and followed by DLI may constitute a successful mode of therapy for patients suffering from advanced CGD with recurrent infectious episodes resulting in organ dysfunction, enabling them to achieve full dono r chimerism and normal superoxide production with minimal risk of transplan t-related toxicity and GVHD.