MHC-I类分子表达缺陷所致免疫缺陷
Immunodeficiency by defective expression of MHC class I
ORPHA:34592疾病
定义 英文原文（暂无中文）
A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported.
别名
裸淋巴细胞综合征1型
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TAP2 | transporter 2, ATP binding cassette subfamily B member | Disease-causing germline mutation(s) in |
| TAP1 | transporter 1, ATP binding cassette subfamily B member | Disease-causing germline mutation(s) in |
| TAPBP | TAP binding protein | Disease-causing germline mutation(s) in |
| B2M | beta-2-microglobulin | Disease-causing germline mutation(s) (loss of function) in |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）