CORE--IMMUNODEFICIENCY PATIENT CARE FACILITY

患者核心将对患者进行筛查诊断和实验室研究，以确定将作为项目1 （Dr. Terhorst）、项目2 （Dr. Geha）和项目3 （Dr. Alt）研究材料的个体。B细胞系、T细胞系和成纤维细胞将从怀疑患有x连锁淋巴细胞增殖疾病（XLP）、T+B-严重联合免疫缺陷（SCID）和T-B-常染色体隐性SCID的患者中制备。该中心还将通过蛋白质和序列分析筛选合适患者的XLP、SLP76和RAG基因突变。鉴定突变的意义将在功能分析中进行研究。核心的FACS切片将支持C. Terhorst、R. Geha和F. Alt三个项目中产生的敲除和转基因小鼠的淋巴细胞分析。

The Patient Core will perform screening diagnosis and laboratory studies on patients in order to identify individuals who will serve as material for the studies in Project 1 (Dr. Terhorst), Project 2 (Dr. Geha) and Project 3 (Dr. Alt). B cell lines, T cell lines and fibroblasts will be prepared from patients suspected of having X-linked lympho proliferation disorders (XLP), patients with T+B- severe combined immunodeficiency (SCID), and of T-B- autosomal recessive SCID. The core will also screen for mutations in the XLP, SLP76- and RAG genes in appropriate patients by protein and sequence analysis. The significance of identified mutations will be studied in functional assays. The FACS section of the core will support the analysis of lymphocytes from knockout and transgenic mice generated in all 3 projects of C. Terhorst, R. Geha, and F. Alt.