Ramsøe K, Skinhøj P, Andersen V, Ernst P, Faber V, Platz P, Thomsen M, Svejgaard A, Eriksen K R, Plesner T, Morling N, Philip J, Killmann S A, Koch C, Muller-Bérat N, Henningsen K, Axelsen H
Transplantation. 1978 Dec;26(6):369-72. doi: 10.1097/00007890-197812000-00001.
Severe combined immunodeficiency (SCID) was diagnosed in a girl immediately after birth; her older brother had SCID and was successfully reconstituted by bone marrow transplantation from his uncle. She was isolated in a laminar air flow bench and decontaminated. The father differed by one HLA-A antigen but was HLA-Dw2 homozygous like the patient; his lymphocytes showed a slight response to the patient's cells in mixed lymphocyte culture (MLC). At the age of 2 1/2 months and again at 5 months, she was given a bone marrow transplant from the father. During the entire course the patient had no infections, and apart from a transient eosinophilia she had no signs of graft-versus-host reaction. Immunological reconstitution was nearly complete at 9 months of age, when she was recontaminated. One year later plasma immunoglobulin concentrations are in the low normal range (IgG and IgM) or decreased (IgA); tests of cell-mediated immunity are normal. Apart from slight upper respiratory infections, the patient has been healthy. Physical and psychological development have been normal.
一名女孩出生后立即被诊断为重症联合免疫缺陷病（SCID）；她的哥哥患有SCID，并通过其叔叔的骨髓移植成功重建了免疫系统。她被隔离在层流通风柜中并进行了净化处理。父亲与患者在一个HLA - A抗原上不同，但与患者一样是HLA - Dw2纯合子；在混合淋巴细胞培养（MLC）中，他的淋巴细胞对患者的细胞有轻微反应。在2个半月和5个月时，她接受了来自父亲的骨髓移植。在整个病程中，患者没有感染，除了短暂的嗜酸性粒细胞增多外，没有移植物抗宿主反应的迹象。9个月大时免疫重建几乎完成，此时她再次受到污染。一年后，血浆免疫球蛋白浓度处于低正常范围（IgG和IgM）或降低（IgA）；细胞介导免疫测试正常。除了轻微的上呼吸道感染外，患者一直健康。身体和心理发育正常。
