Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease.
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.
Kurkchubasche
A G
AG
Department of Surgery, Division of Pediatric Surgery, Brown University School of Medicine, Providence, Rhode Island, USA.
Panepinto
J A
JA
Tracy
T F
TF
Thurman
G W
GW
Ambruso
D R
DR
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
D013481:Superoxides; D020744:rac GTP-Binding Proteins; D000097766:RAC2 GTP-Binding Protein