Rosenblatt N, Hartmann K U, Loor F
Cell Immunol. 1994 Jul;156(2):519-28. doi: 10.1006/cimm.1994.1195.
Mice homozygous for either the generalized lymphoproliferative disease (gld) or the lymphoproliferation (lpr) nonallelic mutations develop similar syndromes combining systemic autoimmunity and lymphoproliferative disease. Though essentially recessive, the lpr and gld mutations may be expressed in the heterozygous state: [lpr/+] mice displayed a mild "lpr-like" autoimmunity, and the [lprcg/+ gld/+] mice developed a "gld-like" disorder, showing interactions of the gld gene product with the nonallelic lprcg product. The Y-chromosome-linked autoimmune accelerator (Yaa) mutation being an autoimmunity accelerator, its association with an heterozygous gld gene might also bring a gld-like syndrome. The [gld/+ Yaa] mice were shown here to develop autoimmunity and splenomegaly like [gld/gld] mice, but without their typical lymphadenopathy. Furthermore, the [gld/+ Yaa] splenomegaly was not due to the expansion of the unusual Thy1+ B220+ T-cell subset typical of the gld syndrome, but rather to a polyclonal expansion of the major lymphoid cell subsets. Thus, the syndrome shown by [gld/+ Yaa] mice was not a gld-like syndrome. This suggests that the interactions of the gld gene product with the Yaa product and with the lprcg product must be different.
纯合子携带全身性淋巴增生性疾病（gld）或淋巴增生（lpr）非等位基因突变的小鼠会出现类似的综合征，该综合征兼具全身性自身免疫和淋巴增生性疾病。虽然lpr和gld突变本质上是隐性的，但它们可能在杂合状态下表达：[lpr/+]小鼠表现出轻度的“lpr样”自身免疫，而[lprcg/+ gld/+]小鼠则出现“gld样”病症，这表明gld基因产物与非等位基因lprcg产物之间存在相互作用。Y染色体连锁的自身免疫加速器（Yaa）突变作为一种自身免疫加速器，它与杂合gld基因的关联也可能引发gld样综合征。本文研究表明，[gld/+ Yaa]小鼠会出现自身免疫和脾肿大，类似[gld/gld]小鼠，但没有其典型的淋巴结病。此外，[gld/+ Yaa]小鼠的脾肿大并非由于gld综合征典型的异常Thy1+ B220+ T细胞亚群的扩增，而是主要淋巴样细胞亚群的多克隆扩增。因此，[gld/+ Yaa]小鼠所表现出的综合征并非gld样综合征。这表明gld基因产物与Yaa产物以及与lprcg产物之间的相互作用必定不同。
