由JAK1基因部分缺陷所致常染色体隐性孟德尔遗传易感性分支杆菌病
Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
ORPHA:574957疾病
定义 英文原文（暂无中文）
A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections, on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association.
别名
Autosomal recessive MSMD due to partial JAK1 deficiency
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 各年龄段
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| JAK1 | Janus kinase 1 | Disease-causing germline mutation(s) 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）