Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant  

作　　者：Laura Gonzalez-Sanchez Ana Mei Agudo Anne Van Den Rym Maria Isabel Begiristain Alazne Saizar Rebeca Perez de Diego Pilar Nozal Alberto Lopez-Lera Margarita Lopez-Trascasa Fernando Corvillo 

机构地区：[1]Complement Research Group,Hospital La Paz Institute for Health Research(ldiPAZ),La Paz University Hospital,Madrid 28046,Spain [2]Center for Biomedical Network Research on Rare Diseases,Madrid,Spain [3]Laboratory of Immunogenetics of Human Diseases,IdiPAz Institute for Health Research,La Paz University Hospital,Madrid 28046,Spain [4]Ormaiztegui Clinic,Guipuzcoa 20216,Spain [5]Immunology Unit,La Paz University Hospital,Madrid 28046,Spain [6]Departamento de Medicina,Universidad Autonoma de Madrid,Madrid28029,Spain

出　　处：《Genes & Diseases》2024年第6期43-46,共4页基因与疾病（英文）

基　　金：funded by the Spanish Instituto de Salud Carlos III (ISCIII)and the European Regional Development Fund European Union (grant Pl15-00255);by the Spanish Autonomous Region ofMadrid (Complement II-CMnetwork;S2017/BMD-3673);F.C.was awarded a research fellowship by the Asociacion Internacional de Familiares y Afectados de Lipodistrofias (AELIP).

摘　　要：Properdin(FP)is a soluble glycoprotein with a key role in the regulation of the alternative pathway(AP)of the complement system.1 Neutrophils are the main source of FP,although monocytes,bone marrow progenitors,and T cells also synthesize this complement regulator.FP is codified by the gene CFP,located at Xp11.23-p11.3,and formed by 10 exons,of which exons 2 to 10 are translated conforming six thrombospondin type 1 repeats(TSR1-6).

关 键 词：Xp11.2 GLYCOPROTEIN PROGENITOR 

分 类 号：R378.15[医药卫生—病原生物学]