Defining New Human Immunodeficiency and Immunodysregulation Disorders

除了缺乏已知诊断的免疫缺陷和免疫失调疾病的独特患者外，我们的患者还包括自身免疫性淋巴细胞增生性综合征（ALPS）或caspase-8缺乏症（CEDS）、常见变异性免疫缺陷综合征（CVID）、x连锁淋巴细胞增生性综合征（XLP）和Evans综合征的患者。我们在过去一年中评估了73名新患者及其亲属，累计200人，使用功能筛查和基因测序来排除已知疾病。大约有20种正在使用生化分析和基因表达微阵列进行更深入的研究。这些实验为目前正在进行的与疾病无关的新候选基因测序提供了线索。

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.