Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease (Q34992223)

5 August 2017

title

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease (English)

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12

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29

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Jean-Laurent Casanova

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Stephanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

23

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Jacinta Bustamante

Jacinta Bustamante

1

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Peter Newburger

Peter E Newburger

26

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Guillaume Vogt

Guillaume Vogt

3

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Ariane Chapgier

Ariane Chapgier

10

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Olivier Lortholary

20

Olivier Lortholary

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Claire Fieschi

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Jacqueline Feinberg

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Antonio Condino-Neto

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Marjorie Hubeau

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Stéphane Blanche

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Lucile Jannière

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Carolina Prando

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Ludovic de Beaucoudrey

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Ludovic de Beaucoudrey

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Andres A Arias

2

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Lizbeth Blancas Galicia

5

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Audrey V Grant

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Christophe C Marchal

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Ethan Valinetz

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Céline Besse

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Anne Boland

17

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Jean-Marie Brisseau

18

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Jean-François Emile

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Saleh Al-Muhsen

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Bruce Woda

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Mary C Dinauer

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5 August 2017

language of work or name

English

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publication date

30 January 2011

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5 August 2017

number of pages

9

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inferred from page(s)

published in

Nature Immunology

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volume

12

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5 August 2017

issue

3

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5 August 2017

page(s)

213-221

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Hematologically important mutations: X-linked chronic granulomatous disease (third update)

5 August 2017

cites work

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8 July 2018

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Human genetics of infectious diseases: between proof of principle and paradigm

8 July 2018

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Chronic granulomatous disease: the European experience

8 July 2018

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Primary B cell immunodeficiencies: comparisons and contrasts

8 July 2018

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Macrophage NADPH oxidase flavocytochrome B localizes to the plasma membrane and Rab11-positive recycling endosomes

8 July 2018

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Induction of caspase- and reactive oxygen species-independent phosphatidylserine externalization in primary human neutrophils: role in macrophage recognition and engulfment

8 July 2018

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Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis.

8 July 2018

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Primary immunodeficiencies: a field in its infancy

8 July 2018

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A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

8 July 2018

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Transcriptional profiling of the human monocyte-to-macrophage differentiation and polarization: new molecules and patterns of gene expression

8 July 2018

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Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

8 July 2018

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Deletion mutagenesis of p22phox subunit of flavocytochrome b558: identification of regions critical for gp91phox maturation and NADPH oxidase activity

8 July 2018

1 reference

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X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

8 July 2018

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Tuberculosis in children and adults: two distinct genetic diseases

8 July 2018

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Monocyte and macrophage heterogeneity

8 July 2018

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How neutrophils kill microbes

8 July 2018

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Mutagenesis of p22(phox) histidine 94. A histidine in this position is not required for flavocytochrome b558 function

8 July 2018

1 reference

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Mycobacterial diseases in primary immunodeficiencies.

8 July 2018

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Genetic dissection of immunity to mycobacteria: the human model

8 July 2018

1 reference

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Location of the epitope for 7D5, a monoclonal antibody raised against human flavocytochrome b558, to the extracellular peptide portion of primate gp91phox

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097900

Hematologically important mutations: X-linked chronic granulomatous disease (second update).

8 July 2018

1 reference

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Phage display epitope mapping of human neutrophil flavocytochrome b558. Identification of two juxtaposed extracellular domains

8 July 2018

1 reference

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Reactive oxygen and nitrogen intermediates in the relationship between mammalian hosts and microbial pathogens

8 July 2018

1 reference

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Genetic, biochemical, and clinical features of chronic granulomatous disease.

8 July 2018

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Chronic granulomatous disease. Report on a national registry of 368 patients

8 July 2018

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The p47(phox-/-) mouse model of chronic granulomatous disease has normal granuloma formation and cytokine responses to Mycobacterium avium and Schistosoma mansoni eggs.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097900

Biosynthesis of flavocytochrome b558 . gp91(phox) is synthesized as a 65-kDa precursor (p65) in the endoplasmic reticulum.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097900

NADPH oxidase activity and cytochrome b558 content of human Epstein-Barr-virus-transformed B lymphocytes correlate with expression of genes encoding components of the oxidase system

8 July 2018

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Nitric oxide and macrophage function

8 July 2018

1 reference

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High-level reconstitution of respiratory burst activity in a human X-linked chronic granulomatous disease (X-CGD) cell line and correction of murine X-CGD bone marrow cells by retroviral-mediated gene transfer of human gp91phox

8 July 2018

1 reference

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Detection of gp91-phox precursor protein in B-cell lines from patients with X-linked chronic granulomatous disease as an indicator for mutations impairing cytochrome b558 biosynthesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097900

Restitution of superoxide generation in autosomal cytochrome-negative chronic granulomatous disease (A22(0) CGD)-derived B lymphocyte cell lines by transfection with p22phax cDNA.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097900

Gene targeting of X chromosome-linked chronic granulomatous disease locus in a human myeloid leukemia cell line and rescue by expression of recombinant gp91phox

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097900

p22-phox-deficient chronic granulomatous disease: reconstitution by retrovirus-mediated expression and identification of a biosynthetic intermediate of gp91-phox.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097900

Hydrogen peroxide metabolism in human monocytes during differentiation in vitro

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097900

Incidence, severity, and prevention of infections in chronic granulomatous disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097900

Restoration of phagocyte function by interferon-gamma in X-linked chronic granulomatous disease occurs at the level of a progenitor cell.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097900

1,25-Dihydroxyvitamin D3 induces monocytic differentiation of the PLB-985 leukemic line and promotes c-fgr mRNA expression.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3097900

BCG-osis and tuberculosis in a child with chronic granulomatous disease

8 July 2018

1 reference

Biosynthesis of the phagocyte NADPH oxidase cytochrome b558. Role of heme incorporation and heterodimer formation in maturation and stability of gp91phox and p22phox subunits

21 January 2018

1 reference

Heme-ligating histidines in flavocytochrome b(558): identification of specific histidines in gp91(phox).

21 January 2018

1 reference

Creation of a genetic system for analysis of the phagocyte respiratory burst: high-level reconstitution of the NADPH oxidase in a nonhematopoietic system

21 January 2018

1 reference

NOX2 Controls Phagosomal pH to Regulate Antigen Processing during Crosspresentation by Dendritic Cells

21 January 2018

1 reference

A highly sensitive fluorescent micro-assay of H2O2 release from activated human leukocytes using a dihydroxyphenoxazine derivative

21 January 2018

1 reference

12 December 2020

Comparison of the roles of reactive oxygen and nitrogen intermediates in the host response to Mycobacterium tuberculosis using transgenic mice

1 reference

12 December 2020

Monoclonal antibody 7D5 raised to cytochrome b558 of human neutrophils: immunocytochemical detection of the antigen in peripheral phagocytes of normal subjects, patients with chronic granulomatous disease, and their carrier mothers

1 reference

12 December 2020

Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma

1 reference

12 December 2020

Molecular basis of interferon-gamma and lipopolysaccharide enhancement of phagocyte respiratory burst capability. Studies on the gene expression of several NADPH oxidase components

1 reference

12 December 2020

Processing and Maturation of Flavocytochromeb558Include Incorporation of Heme as a Prerequisite for Heterodimer Assembly

1 reference

12 December 2020

Identifiers

DOI

10.1038/NI.1992

1 reference

release_yddritpgifamtgywcuapmgtwre

5 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/yddritpgifamtgywcuapmgtwre

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3097900

1 reference

5 August 2017

1 reference