Defining New Human Immunodeficiency and Immunodysregulation Disorders

定义新的人类免疫缺陷和免疫失调疾病

• 批准号: 7732707
• 负责人: Helen Su
• 金额: $ 65.76万
• 依托单位: NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7732707
• 关键词: Apoptosis; Autoimmunity; Biochemical; Candidate Disease Gene; Clinical; Common Variable Immunodeficiency; Diagnosis; Disease; Gene Expression; Genes; Genomics; Human; Immune System Diseases; Immune system; Immunologic Deficiency Syndromes; Intake; Lymphocyte; Lymphocyte Activation; Lymphoid; Molecular; Mycoses; Organ; Patients; Predisposition; Relative (related person); Screening procedure; Syndrome; Technology; Variant; Viral; X-Linked lymphoproliferative disorders; autoimmune lymphoproliferative syndrome; caspase-8; improved; research study

Besides unique patients with immunodeficiency and immunodysregulation disorders lacking known diagnoses, our intake includes patients with variants of autoimmune lymphoproliferative syndrome (ALPS) or caspase-8-deficiency state (CEDS), common variable immunodeficiency (CVID), X-linked lymphoproliferative syndrome (XLP), and Evans syndrome. We have evaluated 73 new patients and their relatives over the past year, for 200 cumulatively, using functional screening and gene sequencing to exclude known disease. About 20 are being more intensively studied using biochemical analyses and gene expression microarrays. These experiments have provided leads for sequencing of new candidate genes not previously associated with disease, which is currently in progress.

除了缺乏已知诊断的免疫缺陷和免疫失调的独特患者外，我们的收治对象还包括自身免疫淋巴增殖综合征(Alps)或caspase-8缺陷状态(CEDS)、常见变量免疫缺陷(CVID)、X连锁淋巴增殖综合征(XLP)和埃文斯综合征变异体的患者。在过去的一年里，我们使用功能筛查和基因测序来排除已知疾病，对73名新患者及其亲属进行了评估，累计评估了200人。使用生化分析和基因表达微阵列对大约20个进行了更深入的研究。这些实验为以前与疾病无关的新候选基因的测序提供了线索，目前这项工作正在进行中。