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

doi:10.1067/mpd.2001.114718

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 journal › Article › peer-review

53 Scopus citations

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 language	English (US)
Pages (from-to)	141-147
Number of pages	7
Journal	Journal of Pediatrics
Volume	139
Issue number	1
DOIs	https://doi.org/10.1067/mpd.2001.114718
State	Published - 2001

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

Access to Document

10.1067/mpd.2001.114718

Cite this

@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",

doi = "10.1067/mpd.2001.114718",

language = "English (US)",

volume = "139",

pages = "141--147",

journal = "Journal of Pediatrics",

issn = "0022-3476",

publisher = "Elsevier Inc.",

number = "1",

}

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.

UR - https://www.scopus.com/pages/publications/0034973568

UR - https://www.scopus.com/pages/publications/0034973568#tab=citedBy

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 -

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

Abstract

UN SDGs

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this