POLYGENIC VARIAITON OF COMPLEMENT C4 IN IMMUNOLOGIC DISEASES

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。特异性目的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严重感染患者中C4A和/或C4B缺陷的存在。特异性目的2：在具有上述临床表型和持续性C4缺乏的患者的父母和兄弟姐妹中鉴定C4A和C4B多态性。特异性目的3：在C4缺乏的患者和先证者的家庭成员中，将特定的C4缺乏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.