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.
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health