Establishment of diagnosis and stem cell transplantation therapy regarding severe combined immunodeficiency

点击翻译按钮获取中文摘要

Patients with severe combined immunodeficiency (SCID) is a disorder of poor prognosis. A subgroup of SCID increased cellular radiation sensitivity (RS-SCID) have mutations of Artemis, a gene that encodes a protein essential for V(D)J recombination and DNA double-strand break repair. We have identified three Japanese boys and one girl from four unrelated families with RS-SCID caused by a genomic exon 3 deletion of the Artemis gene, resulting in loss of exon 3 and skipping of exon 4. Two patients were homozygous and two patients were heterozygous for this novel mutation. Those parents studied were heterozygous for this mutation. Although two infants underwent successful bone marrow transplantation and immune reconstitution, the long-term outcome of this procedure is uncertain, because Artemis is expressed in most tissues and lack of its function in cells other than those derived from hematopoietic stem cells may increase the risk of malignancies.A diagnosis tends to be late, and because transplantation methods are not unified, the treatment of SCID is different the hospital. We are able to establish a genetic analysis in Japan, and develop early diagnosis and hematopoietic stem cell transplantation methods of severe combined immunodeficiency by this study. In these two years, we were able to make transplantation protocol of severe combined immunodeficiency jointly. In addition, we] could do presentation of severe combined immunodeficiency and other immunodeficiency.