title: Unraveling human natural killer cell deficiency.
abstract: NK cells are a component of the innate immune system identified in animals as serving an essential role in antiviral immunity. Establishing their role in human health has been challenging, with the most direct insight coming from the study of NK cell-deficient individuals. However, NK cell deficiencies are rare, and more research is needed. In this issue of the JCI, two independent groups of researchers have simultaneously identified the genetic cause of a human NK cell deficiency as mutation in the MCM4 gene, encoding minichromosome maintenance complex component 4. These reports suggest a critical role for the minichromosome maintenance helicase complex in NK cells and NK cell-mediated host defense.
authors.affiliation: University of Pennsylvania School of Medicine, Department of Pediatrics, Children’s Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania 19104, USA. orange@upenn.edu
authors.forename: Jordan S
authors.initials: JS
authors.lastname: Orange
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics*; D000818:Animals; D018797:Cell Cycle Proteins / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007694:Killer Cells, Natural / Q000166:cytology*; D008297:Male; D064148:Minichromosome Maintenance Complex Component 4; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D004265:DNA Helicases; C099243:MCM4 protein, human; C516793:Mcm4 protein, mouse; D064148:Minichromosome Maintenance Complex Component 4