X-linked combined immunodeficiency due to SASH3 deficiency
定义 英文原文（暂无中文）
A rare non-severe combined immunodeficiency characterized by recurrent sinopulmonary/pulmonary, skin/soft tissue infections, warts and sepsis. Additional clinical features may include meningitis, dental abscesses, septic arthritis, progressive multifocal leukoencephalopathy, episodic bradycardia, bronchiectasis, granulomatous nodules, hypothyroidism, hypophosphatemia, enteropathy, nodular regenerative hyperplasia/hepatomegaly, liver granulomas, granulomatous skin lesions and aphthous ulcers. Infections could be bacterial, viral or fungal. Affected individuals present with refractory autoimmune cytopenias, hemolytic anemia, thrombocytopenia, lymphopenia, and decreased natural killer cells.
别名
X-linked CID due to SASH3 deficiency
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 青少年期、成年期、儿童期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SASH3 | SAM and SH3 domain containing 3 | Disease-causing germline mutation(s) (loss of function) 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；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）