DEVELOPMENTAL AND GENETIC DEFECTS OF IMMUNITY

描述（改编自研究者摘要）：主要 免疫缺陷疾病是研究分子生物学的独特人类模型。 这些事件最终导致有效的免疫反应。 与 在这笔赠款的支持下，该小组参加了鉴定 与X连锁免疫缺陷疾病和 这些基因产物的功能分析。的理解 免疫紊乱的分子基础极大地促进了 受体-配体相互作用的概念和淋巴细胞的原理 活化、分化、信号转导和免疫球蛋白 同种型转换 首席研究员是一个团队的一员 他们最近分离出了维斯科特症患者的基因突变， 奥尔德里奇综合征（WAS），一种大多数造血细胞 研究者收集的B细胞和T细胞 来自超过25个受影响家庭的成员的线路将允许 WAS的代表性突变分析，并将回答以下问题 临床表型和类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，研究人员已经概述了分析 WAS蛋白质的性质。 主要研究者将专注于WAS 基因表达及其调控，物理和功能特性 WAS蛋白质，其在细胞内的分布， 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.