Literature DB >> 11445809

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

A G Kurkchubasche1, J A Panepinto, T F Tracy, G W Thurman, D R Ambruso.   

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.

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Year:  2001        PMID: 11445809     DOI: 10.1067/mpd.2001.114718

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  16 in total

Review 1.  Assembly of the phagocyte NADPH oxidase.

Authors:  William M Nauseef
Journal:  Histochem Cell Biol       Date:  2004-08-04       Impact factor: 4.304

2.  Cytotoxic necrotizing factor type 1 production by uropathogenic Escherichia coli modulates polymorphonuclear leukocyte function.

Authors:  Jon M Davis; Susan B Rasmussen; Alison D O'Brien
Journal:  Infect Immun       Date:  2005-09       Impact factor: 3.441

Review 3.  Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies.

Authors:  Roshini S Abraham; Geraldine Aubert
Journal:  Clin Vaccine Immunol       Date:  2016-04-04

Review 4.  Neutrophil migration: moving from zebrafish models to human autoimmunity.

Authors:  Miriam A Shelef; Sebastien Tauzin; Anna Huttenlocher
Journal:  Immunol Rev       Date:  2013-11       Impact factor: 12.988

Review 5.  Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders.

Authors:  Anja Troeger; David A Williams
Journal:  Exp Cell Res       Date:  2013-07-11       Impact factor: 3.905

6.  Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects.

Authors:  Christopher McKinney; Michael Ellison; Natalie J Briones; Angelina Baroffio; John Murphy; Alexander D Tran; Julie A Reisz; Angelo D'Alessandro; Daniel R Ambruso
Journal:  Blood Adv       Date:  2020-12-08

7.  Vav activation and function as a rac guanine nucleotide exchange factor in macrophage colony-stimulating factor-induced macrophage chemotaxis.

Authors:  Vidya Vedham; Hyewon Phee; K Mark Coggeshall
Journal:  Mol Cell Biol       Date:  2005-05       Impact factor: 4.272

Review 8.  Disease Presentation, Treatment Options, and Outcomes for Myeloid Immunodeficiencies.

Authors:  Elizabeth M Kang
Journal:  Curr Allergy Asthma Rep       Date:  2021-03-05       Impact factor: 4.806

9.  RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.

Authors:  Omar K Alkhairy; Nima Rezaei; Robert R Graham; Hassan Abolhassani; Stephan Borte; Kjell Hultenby; Chenglin Wu; Asghar Aghamohammadi; David A Williams; Timothy W Behrens; Lennart Hammarström; Qiang Pan-Hammarström
Journal:  J Allergy Clin Immunol       Date:  2014-12-12       Impact factor: 10.793

10.  Rac2-deficiency leads to exacerbated and protracted colitis in response to Citrobacter rodentium infection.

Authors:  Ramzi Fattouh; Cong-Hui Guo; Grace Y Lam; Melanie G Gareau; Bo-Yee Ngan; Michael Glogauer; Aleixo M Muise; John H Brumell
Journal:  PLoS One       Date:  2013-04-16       Impact factor: 3.240

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