Immunodysregulation As an Expression of Underlying Inborn Errors of Immunity: Implementation of Diagnostics and Management of Pediatric and Adult Patients with Immune System Disorders
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 400
- 试验地点
- 1
- 主要终点
- Mortality
研究概览
简要总结
This is an observational, retro-prospective, moncentric study focused on Inborn Errors of Immunity, an heterogeneous group of inherited diseases due to defects in the differentiation and/or function of the immune system. The primary aim of this study is to obtain a clinical-immunological, functional and molecular characterisation of paediatric and adult patients with confirmed or suspected Inborn Errors of Immunity, particularly of patients with manifestations of immunedysregulation, focusing on clinical course, immunophenotypic laboratory and functional abnormalities, genetic background.
详细描述
Due to the observational nature of the study, patients were and will be treated according to normal clinical practice and in accordance with medical judgement. The following evaluations were performed in the retrospective cohort and will be performed in the prospective cohort:
- Standard haematochemical examinations;
- Extended lymphocyte typing;
- Plasma dosage of immunoglobulins;
- Evaluation of early and late responses to Measles-Parotitis-Rosolia and Diphtheria-Tetanus-Pertussis vaccinations;
- Evaluation of antibody responses to vaccines against Haemophilus Influenzae, Neisseria Meningitidis and Pneumococcus;
- Detection of auto-antibodies on HEp-2 cells, and of auto-antibodies directed against haemopoietic cells and proteins of innate and adaptive immunity;
- Plasma dosage of complement factors (C3, C4);
- Radiological assessment;
- Functional immunological assay;
- Molecular-genetic investigations of targeted gene panels involved in immunodysregulation and Inborn Errors of Immunity.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- — 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •patients with confirmed or suspected Inborn Errors of Immunity;
- •age < 50 years at onset of clinical features suspected for Inborn Errors of Immunity;
- •obtaining informed consent from patients or parents/legal guardian of pediatric patients.
排除标准
- •patients in whom infectious susceptibility and immunodysregulation can only be attributed to known non-immunological causes: acquired immunodeficiency secondary to chronic infections (HIV), and acquired immunodeficiency secondary to immunosuppressive treatment.
结局指标
主要结局
Mortality
时间窗: 1 year after diagnosis of Inborn Errors of Immunity
time-to-event from diagnosis of Inborn Errors of Immunity up to 1 year
Category of diagnsoed Inborn Error of Immunity
时间窗: at baseline
categories I to X
Qualitative or quantitative alterations in innate immunity and/or adaptive immunity
时间窗: at baseline
presence or absence of alterations
Infective susceptibility
时间窗: at baseline and every 6 months up to 1 year
presence of one of the following conditions: invasive, severe, persistent, recurrent, opportunistic and/or vaccine strain infections
Immunodisregulation
时间窗: at baseline and every 6 months up to 1 year
presence of at least one disorder among atopy, hyperinflammation, autoimmunity, non-clonal lymphoproliferation and/or malignant neoplasms
次要结局
未报告次要终点