Summary:BMT was carried out on a patient with DiGeorge syndrome who suffered recurrent infections after birth. At 13 months of age, 8.0 × 10 8 /kg of bone marrow nuclear cells were infused from an HLA-identical sibling using only anti-thymocyte globulin to prevent rejection. Donor DNA was not detected on microsatellite polymorphism by PCR. At 19 months of age, a second BMT from the same donor was carried out using busulfan and cyclophosphamide as conditioning. DNA examination of bone marrow showed chimerism at day 18 and complete donor origin at day 28. Seven months post-BMT, the numbers of CD3-, CD4-and CD8-positive cells were in the normal range. BMT is thus an effective therapy for DiGeorge syndrome. Keywords: DiGeorge syndrome; complete type; immunodeficiency; bone marrow transplantation DiGeorge syndrome (DGS) is characterized by dysmorphic faces, congenital heart disease, hypocalcemia and T cell dysfunction due to aplasia of the thymus. 1 Although confirmation of aplasia of the thymus is difficult, it is clinically classified as complete or incomplete; the former manifests with cellular immunodeficiency and the latter does not. 2 Therapies for the immunodeficient type of this syndrome have been fetal thymus transplantation, thymic hormone administration and bone marrow transplantation (BMT). For thymic transplantation, it is necessary to use fetal thymic tissue 3 or to use cultured thymic epithelial tissue, since it is not as easy to get donor cells. For thymic hormones such as thymosin, thymopoietin and thymulin, it is unclear what nature of thymic hormones should be used and over what time period, results have varied. 4 BMT has been attempted for DGS in seven patients 5 and two of these underwent transplantation without any pre-conditioning, with favourable results. 6,7 Here, we report a patient with complete-type DGS treated with BMT who exhibited reconstitution of T cell immunity.Correspondence: T Matsumoto, Department of Pediatrics, Nagasaki University School of Medicine, Sakamoto 1-7-1, Nagasaki 852, Japan Received 6 February 1998; accepted 8 July 1998
Case reportA boy was born at 39 weeks gestation with an Apgar score of 7. His birth weight was 3275 g. There were no special events during gestation except for polyhydramion. Family history was negative. He showed cyanosis after birth and respiratory arrest occurred at day 6 probably due to hypocalcemia, and he was referred to the National Nagasaki Central Hospital. He showed the characteristic facial features such as a hypertelorism, narrowed palpebral fissures, low set ears, deformity of both ear helices, anteverted nostrils, a shortened philtrum, micrognathia and a high arched palate. He had hypocalcemia with a low plasma level of parathyroid hormone. Chest X-ray, ultrasound and computed tomography (CT) showed no thymus-like components. Echocardiogram and cardiac catheterization revealed tetralgy of Fallot. He failed to thrive, and showed a tendency towards infection after admission, including repeated episodes of fever and continuous presence of ec...
