裸淋巴细胞综合征 2
基因病名称(英)
Bare lymphocyte syndrome 2
别名(英)
Bare lymphocyte syndrome type II,Bare lymphocyte syndrome type II complementation group A,Bare lymphocyte syndrome type II complementation group B,Bare lymphocyte syndrome type II complementation group C,Bare lymphocyte syndrome type II complementation group D,Bare lymphocyte syndrome type II complementation group E,BLS II,BLS type II,Hereditary MHC class II deficiency,HLA class II deficient combined immunodeficiency,Major histocompatibility complex class II deficiency,MHC-II deficiency,SCID HLA class II-negative,Severe combined immunodeficiency HLA class II-negative
别名
裸淋巴细胞综合征Ⅱ型,裸淋巴细胞综合征Ⅱ型互补组A,裸淋巴细胞综合征Ⅱ型互补组B,裸淋巴细胞综合征Ⅱ型互补组C,裸淋巴细胞综合征Ⅱ型互补组D,裸淋巴细胞综合征Ⅱ型互补组E ,BLS II,BLS II型,遗传性MHC II类缺陷,HLA II类缺陷联合免疫缺陷,主要组织相容性复合物II类缺陷,MHC-II缺陷,SCID HLA II类阴性,重度联合免疫缺陷HLA II类阴性
统计
reviewed:4; annotated:0
交叉引用
209920,C0242583,C1859534,C1859535,C1859536,C1859537,C1859538,C2931418,D016511
描述(英)
A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon- gamma induced MHC II expression, absence of cellular and humoral T- cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.
描述
一种早期发病的严重联合免疫缺陷病。它的特征是组成型和干扰素-γ 诱导的 MHC II 表达存在严重缺陷，缺乏对抗原攻击的细胞和体液 T 细胞反应，低丙种球蛋白血症和抗体产生受损。结果包括对病毒、细菌和真菌感染的极度易感性。