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

Arlet G. Kurkchubasche, Julie A. Panepinto, Thomas F. Tracy, Gail W. Thurman, Daniel R. Ambruso

Research output: Contribution to journalArticlepeer-review

38 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)141-147
Number of pages7
JournalJournal of Pediatrics
Volume139
Issue number1
DOIs
StatePublished - Jan 1 2001

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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