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

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

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.

Publication types

  • Case Reports

MeSH terms

  • Blood Bactericidal Activity
  • Chemotaxis, Leukocyte
  • Humans
  • Infant, Newborn
  • Male
  • Neutrophils / physiology*
  • Phagocytosis
  • RAC2 GTP-Binding Protein
  • Signal Transduction
  • Soft Tissue Infections / genetics*
  • Soft Tissue Infections / immunology
  • Superoxides / metabolism
  • rac GTP-Binding Proteins / genetics*

Substances

  • Superoxides
  • rac GTP-Binding Proteins