特异性颗粒缺乏反复感染
Recurrent infections due to specific granule deficiency
ORPHA:169142疾病
定义 英文原文（暂无中文）
A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.
别名
嗜中性粒细胞-特异性颗粒缺乏症
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
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CEBPE | CCAAT enhancer binding protein epsilon | Disease-causing germline mutation(s) (loss of function) in |
| SMARCD2 | SWI/SNF related BAF chromatin remodeling complex subunit D2 | Disease-causing germline mutation(s) (loss of function) in |
外部标识与链接
OrphanetOMIM:245480OMIM:617475MONDO:0009506MONDO:9506GARD:10778ICD-10 D71ICD-11 4A00.0YClinicalTrials.gov 检索
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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）