TY - JOUR
T1 - Clinical features of a human Rac2 mutation
T2 - A complex neutrophil dysfunction disease
AU - Kurkchubasche, Arlet G.
AU - Panepinto, Julie A.
AU - Tracy, Thomas F.
AU - Thurman, Gail W.
AU - Ambruso, Daniel R.
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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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U2 - 10.1067/mpd.2001.114718
DO - 10.1067/mpd.2001.114718
M3 - Article
C2 - 11445809
AN - SCOPUS:0034973568
SN - 0022-3476
VL - 139
SP - 141
EP - 147
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 1
ER -
