DEVELOPMENTAL AND GENETIC DEFECTS OF IMMUNITY

描述(改编自调查者摘要)：主要 免疫缺陷疾病是研究分子的独特的人体模型。 最终导致有效免疫反应的事件。与 在这笔赠款的支持下，这个团体参与了鉴定 与X连锁免疫缺陷疾病有关的基因和 这些基因产物的功能分析。对…的理解 免疫紊乱的分子基础在很大程度上导致了 受体-配体相互作用的概念和淋巴细胞的原理 激活、分化、信号转导与免疫球蛋白 同型转换。首席调查员一直是一个小组的成员 最近在威斯科特综合症患者身上分离出突变的基因- 奥尔德里奇综合征(Was)，一种大多数造血细胞 血统受到影响。研究人员收集的B细胞和T细胞 来自超过25个受影响家庭成员的线路将允许 过去和将来的代表性突变分析回答了以下问题 临床表型和分型之间是否存在相关性 突变。根据已知的氨基酸组成 Cdna序列，研究人员概述了分析 蛋白质的性质。首席调查员将把重点放在 基因表达及其调控、物理和功能特性 的蛋白，它在细胞内的分布，它的 磷酸化状态。

DESCRIPTION (Adapted from Investigator's abstract): Primary immunodeficiency diseases are unique human models to study the molecular events that ultimately lead to an efficient immune response. With the support of this grant, this group has participated in the identification of genes involved in X-linked immunodeficiency diseases and in the functional analysis of the products of these genes. The understanding of the molecular basis for immune disorders has contributed greatly to the concept of receptor-ligand interaction, and the principles of lymphocyte activation, differentiation, signal transduction and immunoglobulin isotype switching. The principal investigator has been part of a team that recently isolated the gene mutated in patients with the Wiskott- Aldrich syndrome (WAS), a disorder in which most hematopoietic cell lineages are affected.The investigator's collection of B-cell and T-cell lines derived from members of over 25 affected families will permit a representative mutation analysis of WAS and will answer the question of whether a correlation exists between clinical phenotype and type of mutation. Based on the amino acid composition derived from the known cDNA sequence, the investigators have outlined strategies to analyze the nature of the WAS protein. The principal investigator will focus on WAS gene expression and its control, the physical and functional properties of the WAS protein, its distribution within the cell, and its phosphorylation state.