ICF综合征
ICF syndrome
定义 英文原文（暂无中文）
A rare autosomal recessive syndrome with combined immunodeficiency characterized by the clinical triad of immunodeficiency, centromeric instability and facial anomalies (abbreviated ICF syndrome). The immunodeficiency is with panhypogammaglobulinemia, and a lack of memory (CD19+CD27+) B cells in the peripheral blood, although B and T-cell counts are normal. Anomalies and rearrangements associated with DNA hypomethylation in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9, in mitogen-stimulated lymphocytes, is a hallmark of the syndrome. The typical facial anomalies include hypertelorism, low-set ears, epicanthus and macroglossia.
别名
免疫缺陷-着丝粒不稳定-面部异常综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
相关基因 5
| 基因 | 名称 | 关联类型 |
|---|---|---|
| DNMT3B | DNA methyltransferase 3 beta | Disease-causing germline mutation(s) in |
| ZBTB24 | zinc finger and BTB domain containing 24 | Disease-causing germline mutation(s) in |
| CDCA7 | cell division cycle associated 7 | Disease-causing germline mutation(s) in |
| HELLS | helicase, lymphoid specific | Disease-causing germline mutation(s) in |
| UHRF1 | ubiquitin like with PHD and ring finger domains 1 | Disease-causing germline mutation(s) in |
临床表型 23
极常见 99–80%6
- 染色体稳定性异常 HP:0003220
- 循环抗体水平降低 HP:0004313
- 免疫缺陷 HP:0002721
- 小下颌 HP:0000347
- 反复呼吸道感染 HP:0002205
- 身材矮小 HP:0004322
常见 79–30%10
- 中性粒细胞异常 HP:0001874
- 贫血 HP:0001903
- 细胞免疫缺陷 HP:0005374
- 交通性脑积水 HP:0001334
- 鼻梁塌陷 HP:0005280
- 全面发育迟缓 HP:0001263
- 智力障碍 HP:0001249
- 淋巴细胞减少症 HP:0001888
- 巨头畸形 HP:0000256
- 吸收不良 HP:0002024
偶见 29–5%7
- 内眦赘皮 HP:0000286
- 扁平脸 HP:0012368
- 眼距过宽 HP:0000316
- 低位耳 HP:0000369
- 巨舌症 HP:0000158
- 舌头过长 HP:0010808
- 脐疝 HP:0001537
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）