Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
ORPHA:641368疾病暂无中文名
定义 英文原文（暂无中文）
A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
别名
AR-HIES due to ZNF341 deficiency、Autosomal recessive HIES due to ZNF341 deficiency、Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ZNF341 | zinc finger protein 341 | Disease-causing germline mutation(s) in |
外部标识与链接
OrphanetOMIM:618282MONDO:0957426MONDO:32654MONDO:957426ICD-10 D82.4ICD-11 4A01.34ClinicalTrials.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；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）