MHC II表达缺陷所致免疫缺陷
Immunodeficiency by defective expression of MHC class II
ORPHA:572疾病
定义 英文原文（暂无中文）
A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.
别名
裸淋巴细胞综合征2型
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 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| RFX5 | regulatory factor X5 | Disease-causing germline mutation(s) in |
| RFXANK | regulatory factor X associated ankyrin containing protein | Disease-causing germline mutation(s) in |
| RFXAP | regulatory factor X associated protein | Disease-causing germline mutation(s) in |
| CIITA | class II major histocompatibility complex transactivator | Disease-causing germline mutation(s) in |
临床表型 38
必现 100%1
- 表面MHC-II表达降低 HP:0031390
极常见 99–80%3
- T细胞功能缺陷 HP:0005354
- 胃肠道复发性感染 HP:0004798
- 反复呼吸道感染 HP:0002205
常见 79–30%19
- 体液免疫异常 HP:0005368
- 隐孢子虫感染引起的慢性肝炎 HP:0200124
- 慢性皮肤粘膜念珠菌病 HP:0002728
- 循环抗体水平降低 HP:0004313
- 循环β2-微球蛋白水平降低 HP:0025347
- CD4+T细胞比例减低 HP:0032218
- 腹泻 HP:0002014
- 发育迟滞 HP:0001508
- 迁延性腹泻 HP:0004385
- 反复金黄色葡萄球菌感染 HP:0002726
- 反复细菌感染 HP:0002718
- 反复念珠菌感染 HP:0005401
- 反复真菌感染 HP:0002841
- 复发性疱疹 HP:0005353
- 反复原虫感染 HP:0005386
- 反复病毒感染 HP:0004429
- 鼻炎 HP:0012384
- 硬化性胆管炎 HP:0030991
- 鼻窦炎 HP:0000246
偶见 29–5%12
- CD4/CD8比值异常 HP:0031394
- 急性中耳炎 HP:0000371
- 自身免疫性溶血性贫血 HP:0001890
- 自身免疫性血小板减少症 HP:0001973
- 自身免疫 HP:0002960
- 淋巴细胞有丝分裂原应答性增殖减弱 HP:0031381
- T淋巴细胞减少症 HP:0005403
- 中性粒细胞减少症 HP:0001875
- 抗中性粒细胞抗体阳性的中性粒细胞减少症 HP:0001904
- 全血细胞减少症 HP:0001876
- 全丙种球蛋白减少血症 HP:0003139
- 皮疹 HP:0000988
罕见 <4–1%3
- 面部形状异常 HP:0001999
- 构音障碍 HP:0001260
- 共济失调步态 HP:0002066
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
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）