裸淋巴细胞综合征 1
基因病名称(英)
Bare lymphocyte syndrome 1
别名(英)
BLS I,BLS type I,HLA class I deficiency
别名
BLS I、BLS I 型、HLA I 类缺乏症
统计
reviewed:3; annotated:0
交叉引用
604571,C1858266,D007153
描述(英)
A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.
描述
HLA I 类缺陷。与以早发性严重联合免疫缺陷为特征的 2 型和 3 型裸淋巴细胞综合征相反，I 类抗原缺陷在生命的最初几年不伴有特定的病理表现。尚未描述全身感染。慢性细菌感染通常始于生命的最初十年，仅限于呼吸道。