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

Arlet G. Kurkchubasche, Julie A. Panepinto, Thomas F. Tracy, Gail W. Thurman, Daniel R. Ambruso

Research output: Contribution to journalArticle

36 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)141-147
Number of pages7
JournalJournal of Pediatrics
Volume139
Issue number1
DOIs
StatePublished - Jan 1 2001

Fingerprint

Leukocyte Disorders
Soft Tissue Infections
Chemotaxis
Phagocytes
Superoxides
Neutrophils
Eating
Mutation

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Kurkchubasche, Arlet G. ; Panepinto, Julie A. ; Tracy, Thomas F. ; Thurman, Gail W. ; Ambruso, Daniel R. / Clinical features of a human Rac2 mutation : A complex neutrophil dysfunction disease. In: Journal of Pediatrics. 2001 ; Vol. 139, No. 1. pp. 141-147.
@article{11941d2006c843f48f0d8fbba9da57ff,
title = "Clinical features of a human Rac2 mutation: A complex neutrophil dysfunction disease",
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 = "Kurkchubasche, {Arlet G.} and Panepinto, {Julie A.} and Tracy, {Thomas F.} and Thurman, {Gail W.} and Ambruso, {Daniel R.}",
year = "2001",
month = "1",
day = "1",
doi = "10.1067/mpd.2001.114718",
language = "English (US)",
volume = "139",
pages = "141--147",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "1",

}

Clinical features of a human Rac2 mutation : A complex neutrophil dysfunction disease. / Kurkchubasche, Arlet G.; Panepinto, Julie A.; Tracy, Thomas F.; Thurman, Gail W.; Ambruso, Daniel R.

In: Journal of Pediatrics, Vol. 139, No. 1, 01.01.2001, p. 141-147.

Research output: Contribution to journalArticle

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 - 2001/1/1

Y1 - 2001/1/1

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.

UR - http://www.scopus.com/inward/record.url?scp=0034973568&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034973568&partnerID=8YFLogxK

U2 - 10.1067/mpd.2001.114718

DO - 10.1067/mpd.2001.114718

M3 - Article

C2 - 11445809

AN - SCOPUS:0034973568

VL - 139

SP - 141

EP - 147

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 1

ER -