Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 11
- 试验地点
- 1
研究概览
简要总结
OBJECTIVES:
I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome.
II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints.
III. Determine presence of sustained immunologic compromise in older patients.
详细描述
PROTOCOL OUTLINE:
Blood samples are collected at diagnosis of chromosome 22q11 deletion and assessed for lymphocyte proliferation in response to mitogens phytohemagglutinin, pokeweed mitogen, and concanavalin A (mitogen stimulation analyses). These analyses are repeated at 4 months along with a quantitative analysis of immunoglobulin.
At 8 months, patients are tested for their lymphocytes' ability to respond to antigens (candida, tetanus, and diphtheria). At 1 year, patients have lymphocyte subset, IgG, IgA, and IgM analyses performed. Quantitative evaluations of antibody titers to diphtheria, tetanus, Haemophilus influenza, and hepatitis B are also performed.
Over 1 year of age, all studies are performed if the patient is seen for a single visit.
研究设计
- 研究类型
- Observational
- 观察模型
- Natural History
入排标准
- 年龄范围
- 0 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供