POLYGENIC VARIAITON OF COMPLEMENT C4 IN IMMUNOLOGIC DISEASES

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。具体目标1：确定系统性红斑狼疮、慢性荨麻疹、血管性水肿患者以及伴有或不伴有相关抗体缺陷的复发性或重度感染患者是否存在C4 A和/或C4 B缺陷。具体目标二：目的：检测具有上述临床表型和持续性C4缺乏症患者的父母和兄弟姐妹中C4 A和C4 B基因多态性。具体目标3：在C4缺乏症患者和先证者的家族成员中，将特定的C4缺乏症与不同的临床表型相关联。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Specific Aim 1: To determine the presence of C4A and/or C4B deficiencies in patients with systemic lupus erythematosus, chronic urticaria, angioedema and in patients with recurrent or severe infections with or without associated antibody deficiences. Specific Aim 2: To identify C4A and C4B polymorphisms in parents and siblings of patients with the above clinical phenotypes and persistent C4 deficiency. Specific Aim 3: To correlate specific C4 deficiences with different clinical phenotypes in patients and in family members of probands with C4 deficiency.