CORE--IMMUNODEFICIENCY PATIENT CARE FACILITY

患者核心将对患者进行筛选诊断和实验室研究，以确定将作为项目1（Terhorst博士）、项目2（Geha博士）和项目3（Alt博士）研究材料的个体。 B细胞系、T细胞系和成纤维细胞将从疑似患有X连锁淋巴细胞增殖性疾病（XLP）的患者、患有T+B-重度联合免疫缺陷（SCID）的患者和患有T-B-常染色体隐性SCID的患者中制备。 核心还将通过蛋白质和序列分析在适当的患者中筛选XLP，SLP 76-和RAG基因的突变。 将在功能测定中研究鉴定的突变的意义。 核心的FACS部分将支持对来自C.特霍斯特河Geha和F.备选.

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.