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

Kurkchubasche, A G; Panepinto, J A; Tracy, T F; Thurman, G W; Ambruso, D R · J Pediatr · 2001

case_report · Level V

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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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