title: Primary immune deficiencies with defects in neutrophil function.
abstract: Immune deficiencies resulting from inherited defects in neutrophil function have revealed important features of the innate immune response. Although sharing an increased susceptibility to bacterial and fungal infections, these disorders each have distinctive features in their clinical manifestations and characteristic microbial pathogens. This review provides an update on several genetic disorders with impaired neutrophil function, their pathogenesis, and treatment strategies. These include chronic granulomatous disease, which results from inactivating mutations in the superoxide-generating nicotinamide dinucleotide phosphate oxidase. Superoxide-derived oxidants play an important role in the control of certain bacterial and fungal species, and also contribute to the regulation of inflammation. Also briefly summarized are updates on leukocyte adhesion deficiency, including the severe periodontal disease characteristic of this disorder, and a new immune deficiency associated with defects in caspase recruitment domain-containing protein 9, an adaptor protein that regulates signaling in neutrophils and other myeloid cells, leading to invasive fungal disease.
authors.affiliation: Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO.
authors.forename: Mary C
authors.initials: MC
authors.lastname: Dinauer
mesh_terms: D053468:CARD Signaling Adaptor Proteins / Q000235:genetics* / Q000378:metabolism; D015815:Cell Adhesion Molecules / Q000235:genetics* / Q000378:metabolism; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D019255:NADPH Oxidases / Q000235:genetics* / Q000378:metabolism; D009504:Neutrophils / Q000378:metabolism / Q000473:pathology; D015398:Signal Transduction / Q000235:genetics*; D013481:Superoxides / Q000378:metabolism
chemical_list: D053468:CARD Signaling Adaptor Proteins; C505855:CARD9 protein, human; D015815:Cell Adhesion Molecules; D013481:Superoxides; D019255:NADPH Oxidases