Medical College of Wisconsin
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Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease. J Pediatr 2001 Jul;139(1):141-7 PMID: 11445809

Pubmed ID

11445809

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.

Author List

Kurkchubasche AG, Panepinto JA, Tracy TF Jr, Thurman GW, Ambruso DR

Author

Julie A. Panepinto MD, MSPH Professor in the Pediatrics department at Medical College of Wisconsin




Scopus

2-s2.0-0034973568   32 Citations

MESH terms used to index this publication - Major topics in bold

Blood Bactericidal Activity
Chemotaxis, Leukocyte
Humans
Infant, Newborn
Male
Neutrophils
Phagocytosis
Signal Transduction
Soft Tissue Infections
Superoxides
rac GTP-Binding Proteins
jenkins-FCD Prod-310 bff9d975ec7f2d302586822146c2801dd4449aad