When the lymphocyte loses its clothes
When the lymphocyte loses its clothes
复制标题
DOI：
10.1016/s1074-7613(03)00086-4
复制
发表时间：
2003-04-01
期刊：
影响因子：
32.4
通讯作者：
Peterlin, BM
中科院分区：
文献类型：
--
作者：
Nekrep, N;Fontes, JD;Peterlin, BM
II型裸淋巴细胞综合征（BLS）或II类主要组织相容性复合体（MHCII）缺陷是一种严重的联合免疫缺陷（SCID），其特征在于免疫细胞上MHCII决定簇的组成型和诱导型表达的缺乏。BLS的四个互补组已被定义，它们是由DNA结合激活因子和MHCII转录辅激活因子的突变引起的。最近，BLS患者的所有互补组已被考虑。对综合征和特定突变的研究揭示了免疫反应遗传学的重要教训。
The type II bare lymphocyte syndrome (BLS) or major histocompatibility complex class II (MHCII) deficiency is a severe combined immunodeficiency (SCID) that is characterized by the absence of constitutive and inducible expression of MHCII determinants on immune cells. Four complementation groups of BLS have been defined, and they result from mutations in DNA-bound activators and the coactivator for MHCII transcription. Recently, all complementation groups of BLS patients have been accounted for. Studies of the syndrome and specific mutations reveal important lessons for the genetics of the immune response.