NCT02460328已完成不适用
Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 43
- 试验地点
- 1
- 主要终点
- age of resolution in immune defect in 22q11.2 Deletion Syndrome
研究概览
简要总结
- Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome
- Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome
详细描述
22q11.2 Deletion Syndrome is the most common for microdeletion syndrome. The incidence is about 1:4000 of live birth. Clinical features in this syndrome are vary which consist of conotruncal cardiac anomalies, developmental disabilities, palatal anomalies, speech delay, hypocalcemia, characteristic facial features and immunodeficiencies. The most common type of immunodeficiencies is T cell defect that associated with thymic hypoplasia. In the present time, the investigators don't know about the resolution of immune defect in this syndrome.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
入排标准
- 年龄范围
- — 至 15 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •22q11.2 deletion syndrome patients in allergy and immunology clinic, genetic clinic, cardio clinic, genetic clinic and development clinic
排除标准
- •loss follow up in 22q11.2 deletion syndrome patients or incomplete medical record
结局指标
主要结局
age of resolution in immune defect in 22q11.2 Deletion Syndrome
时间窗: 18 months
次要结局
- incidence of immunodeficiencies in 22q11.2 Deletion Syndrome(18 months)
- type of infectious disease in 22q11.2 Deletion Syndrome(18 months)
研究者
研究点 (1)
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