Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
ORPHA:619941疾病暂无中文名
定义 英文原文（暂无中文）
A rare primary immunodeficieny due to a defect in innate immunity characterized by infantile-onset severe, recurrent bacterial infections. Patients may present with septic shock, meningitis, progressive and severe pneumonia (mostly associated with Pseudomonas infection), malignant otitis media, cutaneous and subcutaneous abscesses and poor wound healing. Severe impairment in neutrophil phagocytosis/migration are reported in all patients. Mild thrombocytopenia can also be present.
别名
Congenital neutropenia-CID due to MKL1 deficiency、Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency、MKL1-related neutrophil motility defect
基本事实
- 遗传方式
- 常染色体隐性
- 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 |
|---|---|---|
| MRTFA | myocardin related transcription factor A | Disease-causing germline mutation(s) in |
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）