人类Rac2突变的临床特征：一种复杂的中性粒细胞功能障碍疾病。
Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease.
作者信息
Kurkchubasche A G, Panepinto J A, Tracy T F, Thurman G W, Ambruso D R
机构信息
Department of Surgery, Division of Pediatric Surgery, Brown University School of Medicine, Providence, Rhode Island, USA.
出版信息
J Pediatr. 2001 Jul;139(1):141-7. doi: 10.1067/mpd.2001.114718.
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.
本文报告了一名患有多种快速进展性软组织感染的婴儿病例。尽管有提示中性粒细胞疾病的特征，但吞噬细胞功能筛查试验结果正常。继发于Rac2缺陷，一种新型的多方面白细胞疾病得以确诊，其特征为形态改变、趋化性、吞噬作用、脱颗粒、超氧阴离子产生及杀菌活性存在缺陷。
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