title: Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease.
abstract: The case of an infant with multiple, rapidly progressive, soft-tissue infections is presented. Despite features suggesting a neutrophil disorder, results of screening tests of phagocyte function were normal. A novel, multifaceted leukocyte disorder-distinguished by defects in shape change, chemotaxis, ingestion, degranulation, superoxide anion production, and bactericidal activity-was established secondary to a defect in Rac2.
authors.affiliation: Department of Surgery, Division of Pediatric Surgery, Brown University School of Medicine, Providence, Rhode Island, USA.
authors.forename: A G
authors.initials: AG
authors.lastname: Kurkchubasche
authors.forename: J A
authors.initials: JA
authors.lastname: Panepinto
authors.forename: T F
authors.initials: TF
authors.lastname: Tracy
authors.forename: G W
authors.initials: GW
authors.lastname: Thurman
authors.forename: D R
authors.initials: DR
authors.lastname: Ambruso
mesh_terms: D001770:Blood Bactericidal Activity; D002634:Chemotaxis, Leukocyte; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009504:Neutrophils / Q000502:physiology*; D010587:Phagocytosis; D015398:Signal Transduction; D018461:Soft Tissue Infections / Q000235:genetics* / Q000276:immunology; D013481:Superoxides / Q000378:metabolism; D020744:rac GTP-Binding Proteins / Q000235:genetics*; D000097766:RAC2 GTP-Binding Protein
chemical_list: D013481:Superoxides; D020744:rac GTP-Binding Proteins; D000097766:RAC2 GTP-Binding Protein