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Case Reports
. 2001 Jul;139(1):141-7.
doi: 10.1067/mpd.2001.114718.

Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease

A G Kurkchubasche  1 , J A Panepinto, T F Tracy Jr, G W Thurman, D R Ambruso
Affiliations
Case Reports

Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease

A G Kurkchubasche et al. J Pediatr. 2001 Jul.

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.

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