Leukocyte adhesion defect:Where do we stand circa 2019?  

作　　者：Jhumki Das Avinash Sharma Ankur Jindal Vaishali Aggarwal Amit Rawat 

机构地区：[1]Allergy Immunology Unit,Department of Pediatrics,Advanced Pediatrics Centre,Postgraduate Institute of Medical Education and Research,Chandigarh,India [2]Department of Pediatrics,Dr Rajendra Prasad Government Medical College,Tanda,Kangra,Himachal Pradesh,India

出　　处：《Genes & Diseases》2020年第1期107-114,共8页基因与疾病（英文）

摘　　要：Migration of polymorphonuclear leukocytes from bloodstream to the site of inflammation is an important event required for surveillance of foreign antigens.This trafficking of leukocytes from bloodstream to the tissue occurs in several distinct steps and involves several adhesion molecules.Defect in adhesion of leukocytes to vascular endothelium affecting their subsequent migration to extravascular space gives rise to a group of rare primary immunodeficiency diseases(PIDs)known as Leukocyte Adhesion Defects(LAD).Till date,four classes of LAD are discovered with LAD I being the most common form.LAD I is caused by loss of function of common chain,cluster of differentiation(CD)18 of β2 integrin family.These patients suffer from life-threatening bacterial infections and in its severe form death usually occurs in childhood without bone marrow transplantation.LAD II results from a general defect in fucose metabolism.These patients suffer from less severe bacterial infections and have growth and mental retardation.Bombay blood group phenotype is also observed in these patients.LAD III is caused by abnormal integrin activation.LAD III patients suffer from severe bacterial and fungal infections.Patients frequently show delayed detachment of umbilical cord,impaired wound healing and increased tendency to bleed.LAD IV is the most recently described class.It is caused by defects in β2 and α4β1 integrins which impairs lymphocyte adhesion.LAD IV patients have monogenic defect in cystic-fibrosis-transmembraneconductance-regulator(CFTR)gene,resulting in cystic fibrosis.Pathophysiology and genetic etiology of all LAD syndromes are discussed in detail in this paper.

关 键 词：Neutrophilic defect Neutrophilic leukocytosis Phagocyte rolling PHAGOCYTES Primary immunodeficiency disorders 

分 类 号：R392[医药卫生—免疫学]