Griscelli C, Durandy A, Virelizier J L, Ballet J J, Daguillard F
J Pediatr. 1978 Sep;93(3):404-11. doi: 10.1016/s0022-3476(78)81146-9.
Two patients, one with an autosomal and the other a sex-linked form of severe combined immunodeficiency, had more than 95% B cells in their peripheral blood. Despite an increased absolute number of B lymphocytes, the patients were unable to produce serum antibodies. In each patient, geno- or pheno-identical bone marrow transplantation was followed by the visualization of a thymus shadow and the appearance of both cellular and humoral functions. Chromosome of allotype studies showed that the T cell originated from the donor whereas serum immunoglobulins were synthesized by host B cells. In these patients the pathogenesis appears to be a selective defect of bone marrow precursor T cells without concomitant intrinsic B cell defect. The successful outcome of the graft in these two patients, who are now, respectively, 5 years and 11 months of age and free of infections, indicates that the preferred form of therapy in such patients is transplantation of bone marrow stem cells, which populate the thymus and mature slowly into T cells that cooperate fully with host B cells in synthesis of antibody.
两名患者，一名患有常染色体隐性遗传的重症联合免疫缺陷，另一名患有性连锁重症联合免疫缺陷，其外周血中B细胞含量超过95%。尽管B淋巴细胞的绝对数量有所增加，但患者无法产生血清抗体。在每名患者中，基因或表型相同的骨髓移植后，胸腺影像显现，细胞免疫和体液免疫功能均出现。同种异型研究的染色体显示，T细胞起源于供体，而血清免疫球蛋白由宿主B细胞合成。在这些患者中，发病机制似乎是骨髓前体T细胞的选择性缺陷，而不存在内在的B细胞缺陷。这两名患者分别为5岁和11个月大，现已无感染，移植成功表明，此类患者首选的治疗方式是移植骨髓干细胞，这些干细胞会在胸腺中定植，并缓慢成熟为T细胞，在与宿主B细胞协同合成抗体方面发挥充分作用。
