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

Authors
Kurkchubasche, AG Panepinto, JA Tracy, TF Thurman, GW Ambruso, DR
Citation
Ag. Kurkchubasche et al., Clinical features of a human Rac2 mutation: A complex neutrophil dysfunction disease, J PEDIAT, 139(1), 2001, pp. 141-147
Citations number
22
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
JOURNAL OF PEDIATRICS
ISSN journal
00223476 → ACNP
Volume
139
Issue
1
Year of publication
2001
Pages
141 - 147
Database
ISI
SICI code
0022-3476(200107)139:1<141:CFOAHR>2.0.ZU;2-L
Abstract
The case of an infant with multiple, rapidly progressive, soft-tissue infec tions is presented. Despite features suggesting a neutrophil disorder, resu lts of screening tests of phagocyte function were normal. A novel, multifac eted Leukocyte disorder-distinguished by defects in shape change, chemotaxi s, ingestion, degranulation, superoxide anion production, and bactericidal activity-was established secondary to a defect in Rac2.