Touraine J L, Betuel H, Souillet G, Jeune M
J Pediatr. 1978 Jul;93(1):47-51. doi: 10.1016/s0022-3476(78)80598-8.
An infant with a family history suggestive of immunodeficiency presented with combined immunodeficiency. No HLA-A and -B antigens were present on lymphocyte and platelet surfaces, but they were found in the serum. HLA-D determinants were present on lymphocytes. In spite of a fetal thymus transplantation, the infant died of infections associated with the immunodeficiency. The thymus and lymphoid organs were present but hypoplastic and contained few lymphocytes at postmortem examination. The finding of an immodeficiency associated with an absence of cell-surface HLA-A and -B antigens may be regarded as the consequence of the lack of cellular histocompatibility antigens on immune development. Alternatively, other membrane components may have also been defective and partly responsible for the observed abnormalities.
一名有免疫缺陷家族史的婴儿出现了联合免疫缺陷。淋巴细胞和血小板表面未发现HLA - A和 - B抗原，但在血清中发现了这些抗原。淋巴细胞上存在HLA - D决定簇。尽管进行了胎儿胸腺移植，该婴儿仍死于与免疫缺陷相关的感染。尸检发现胸腺和淋巴器官存在，但发育不全，淋巴细胞数量很少。与细胞表面HLA - A和 - B抗原缺失相关的免疫缺陷可能被认为是免疫发育过程中缺乏细胞组织相容性抗原的结果。或者，其他膜成分也可能存在缺陷，并部分导致了观察到的异常情况。
