X连锁严重先天性中性粒细胞减少症
X-linked severe congenital neutropenia
ORPHA:86788疾病
定义 英文原文（暂无中文）
X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| WAS | WASP actin nucleation promoting factor | Disease-causing germline mutation(s) in |
临床表型 3
极常见 99–80%3
- 中性粒细胞减少症 HP:0001875
- 单核细胞减少症 HP:0012312
- 反复细菌感染 HP:0002718
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）