CORE--IMMUNODEFICIENCY PATIENT AND FACS FACILITY

患者核心将执行以下诊断和分类 将作为项目1研究的材料的患者 (TerHorst)、项目2(Geha博士)和项目3(Dr.Alt)，并将准备 X连锁患者的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)、 常染色体隐性遗传性重度联合免疫缺陷(SCID)患者 TCR/CD3表达缺陷和高IgE患者 综合症。患者核心也会产生必要的抗体 抗CD40配体和ATK/bpk在阿尔茨海默病和格哈病研究中的应用 并将识别携带者并在家庭中进行宫内诊断 使用HIGMX-1、XLA和SCID。FACS核心将检查CD40配体 (CD40L)在胸腺和幼儿中的表达，并将评估 CD40L在婴儿一过性低丙种球蛋白血症(THI)中的表达 同型转换延迟的疾病。FACS核心将分析 HIGMX-1、XLA、SCID和THI、Will患者的淋巴细胞 对基因敲除后的淋巴细胞进行所有表型分析 在C.Terhorst、R.Geha和C.Terhorst的所有三个项目中产生的转基因小鼠 F.Alt.

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.