CORE--IMMUNODEFICIENCY PATIENT AND FACS FACILITY

Patient Core将执行以下诊断和分类： 将作为项目1研究材料的患者 项目2（Geha博士）和项目3（Alt博士），并将准备 来自X-连锁的患者的B细胞系、T细胞系和成纤维细胞 高IgM综合征（HIGMX-1），X连锁无丙种球蛋白血症（XLA）， 常染色体隐性严重联合免疫缺陷（SCID），患者 TCR/CD 3表达缺陷和高IgE患者 综合征 病人核心也会产生必要的抗体 Alt和Geha患者研究中的抗CD 40配体和atk/bpk 并将在家庭中识别携带者并进行宫内诊断 与HIGMX-1，XLA和SCID。 流式细胞仪核心将检测CD 40配体 （CD 40 L）表达在胸腺和幼儿，并将评估 婴儿短暂性低丙种球蛋白血症（THI）中Cd 40 L的表达，a 同种型转换延迟的疾病。 流式细胞仪核心会分析 来自具有HIGMX-1、XLA、SCID和THI的患者的淋巴细胞， 进行来自敲除的淋巴细胞的所有表型分析， C.特霍斯特河格哈和 F.备选.

The Patient Core will perform the diagnosis and classification of patients who will serve as material for the studies in Project 1 (Terhorst), Project 2 (Dr. Geha) and Project 3 (Dr. Alt) and will prepare B cell lines, T cell lines and fibroblasts from patients with X-linked hyper IgM syndrome (HIGMX-1), X-linked agammaglobulinemia (XLA), autosomal recessive severe combined immunodeficiency (SCID), patients with defective TCR/CD3 expression and patients with the Hyper IgE syndrome. The Patient Core will also generate the necessary antibodies against CD40 ligand and atk/bpk for the patient studies of Alt and Geha and will identify carriers and make intrauterine diagnoses in families with HIGMX-1, XLA, and SCID. The FACS core will examine CD40 ligand (CD40L) expression in the thymus and in young children and will assess Cd40L expression in Transient Hypogammaglobulinemia of Infancy (THI), a disease with a delay in isotype switching. The FACS core will analyze lymphocytes from patients with HIGMX-1, XLA, SCID and THI and will perform all the phenotypic analyses of lymphocytes from knockout and transgenic mice generated in all 3 projects of C. Terhorst, R. Geha and F. Alt.