Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease (Q37388319)

20 August 2017

Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease (English)

1 reference

20 August 2017

Foster CB

1 reference

20 August 2017

Lehrnbecher T

1 reference

20 August 2017

Mol F

1 reference

20 August 2017

Steinberg SM

1 reference

20 August 2017

Venzon DJ

1 reference

20 August 2017

Walsh TJ

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20 August 2017

Noack D

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20 August 2017

Rae J

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20 August 2017

Winkelstein JA

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20 August 2017

Curnutte JT

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20 August 2017

Chanock SJ

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20 August 2017

language of work or name

English

0 references

publication date

1 December 1998

1 reference

Journal of Clinical Investigation

20 August 2017

1 reference

20 August 2017

102

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20 August 2017

1 reference

20 August 2017

2146-2155

1 reference

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

CD4+ T cell-mediated granulomatous pathology in schistosomiasis is downregulated by a B cell-dependent mechanism requiring Fc receptor signaling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

A novel polymorphism of FcgammaRIIIa (CD16) alters receptor function and predisposes to autoimmune disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Fc gammaRIIIa-158V/F polymorphism influences the binding of IgG by natural killer cell Fc gammaRIIIa, independently of the Fc gammaRIIIa-48L/R/H phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Lack of association between an interleukin-1 receptor antagonist gene polymorphism and ulcerative colitis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Clinical relevance of Fc gamma receptor polymorphisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Inherited resistance to HIV-1 conferred by an inactivating mutation in CC chemokine receptor 5: studies in populations with contrasting clinical phenotypes, defined racial background, and quantified risk

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Expression of inducible nitric oxide synthase and its involvement in pulmonary granulomatous inflammation in rats

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

The NADPH oxidase and chronic granulomatous disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

An Alu element in the myeloperoxidase promoter contains a composite SP1-thyroid hormone-retinoic acid response element

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

FcR gamma chain deletion results in pleiotrophic effector cell defects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Fc gamma receptor IIIb enhances Fc gamma receptor IIa function in an oxidant-dependent and allele-sensitive manner

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

The chemistry of peroxynitrite: a product from the reaction of nitric oxide with superoxide

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Molecular basis for a polymorphism of human Fc gamma receptor II (CD32)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Molecular basis of a common opsonic defect

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Allelic polymorphisms of human Fc gamma receptor IIA and Fc gamma receptor IIIB. Independent mechanisms for differences in human phagocyte function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

The oxygen free radical system: from equations through membrane-protein interactions to cardiovascular injury and protection

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Genetic restriction of AIDS pathogenesis by an SDF-1 chemokine gene variant. ALIVE Study, Hemophilia Growth and Development Study (HGDS), Multicenter AIDS Cohort Study (MACS), Multicenter Hemophilia Cohort Study (MHCS), San Francisco City Cohort (SF

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Preservation of complement-induced lung injury in mice with deficiency of NADPH oxidase.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

NIH conference. Recent advances in chronic granulomatous disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

The -308 tumor necrosis factor-alpha promoter polymorphism effects transcription.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Relationship between genotype and phenotype in monogenic diseases: relevance to polygenic diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Human IgG Fc receptor heterogeneity: molecular aspects and clinical implications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Chronic granulomatous disease: the solving of a clinical riddle at the molecular level

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Reactions of nitric oxide with mitochondrial cytochrome c: a novel mechanism for the formation of nitroxyl anion and peroxynitrite

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Clinical differences in chronic granulomatous disease in patients with cytochrome b-negative or cytochrome b-positive neutrophils.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Discoid lupus erythematosus and X-linked chronic granulomatous disease

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Corticosteroids in treatment of obstructive lesions of chronic granulomatous disease

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

A single amino acid distinguishes the high-responder from the low-responder form of Fc receptor II on human monocytes

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Chronic Granulomatous Disease Presenting in a 69-Year-Old Man

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Formation of nitric oxide-derived inflammatory oxidants by myeloperoxidase in neutrophils

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Relationship between Fc receptor IIA polymorphism and infection in children with sickle cell disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Reactive nitrogen intermediates and antimicrobial activity: role of nitrite.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Fc gamma receptor IIa (CD32) heterogeneity in patients with recurrent bacterial respiratory tract infections

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Glomerulonephritis associated with chronic granulomatous disease and systemic lupus erythematosus

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies

5 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509169

Rapid detection of the Fc gamma RIIA-H/R 131 ligand-binding polymorphism using an allele-specific restriction enzyme digestion (ASRED)

3 December 2018

1 reference

12 December 2020

X-CGDbase: a database of X-CGD-causing mutations

1 reference

12 December 2020

Mannose-binding protein genetic polymorphisms in black patients with systemic lupus erythematosus

1 reference

12 December 2020

A dysfunctional allele of the mannose binding protein gene associates with systemic lupus erythematosus in a Spanish population

1 reference

12 December 2020

Mannose-binding protein gene polymorphism in systemic lupus erythematosus

1 reference

12 December 2020

Association of Graves' disease with an allele of the interleukin-1 receptor antagonist gene

1 reference

12 December 2020

Cytokine production by normal human monocytes: inter-subject variation and relationship to an IL-1 receptor antagonist (IL-1Ra) gene polymorphism

1 reference

12 December 2020

Modulation of granuloma formation by endogenous nitric oxide

1 reference

12 December 2020

Lack of association between an interleukin-1 receptor antagonist gene polymorphism and systemic lupus erythematosus

1 reference

12 December 2020

Skewed distribution of IgG Fc receptor IIa (CD32) polymorphism is associated with renal disease in systemic lupus erythematosus patients

1 reference

12 December 2020

Chronic granulomatous disease

1 reference

12 December 2020

Discoid lupus erythematosus-like lesions and stomatitis in female carriers of X-linked chronic granulomatous disease

1 reference

12 December 2020

Colitis in chronic granulomatous disease

1 reference

12 December 2020

Chronic granulomatous disease of childhood presenting as gastric outlet obstruction

1 reference

12 December 2020

Discoid lupus erythematosus-like lesions in an autosomal form of chronic granulomatous disease

1 reference

12 December 2020

Discoid lupus erythematosus-like skin lesions in a patient with autosomal recessive chronic granulomatous disease

1 reference

12 December 2020

Urinary tract disorders in patients with chronic granulomatous disease

1 reference

12 December 2020

Antibodies to C1q in systemic lupus erythematosus: characteristics and relation to Fc gamma RIIA alleles

1 reference

12 December 2020

Myeloperoxidase genetic polymorphism and lung cancer risk

1 reference

12 December 2020

Mucosal injury and inflammation in a model of chronic granulomatous colitis in rats

1 reference

12 December 2020

Single base polymorphism in the human tumour necrosis factor alpha (TNF alpha) gene detectable by NcoI restriction of PCR product

1 reference

12 December 2020

Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat

1 reference

12 December 2020

Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist

1 reference

12 December 2020

Polyarthritis resembling juvenile rheumatoid arthritis in a girl with chronic granulomatous disease

1 reference

12 December 2020

A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein

1 reference

12 December 2020

Chronic granulomatous disease

1 reference

12 December 2020

Fc gamma receptor IIa (CD32) polymorphism in fulminant meningococcal septic shock in children

1 reference

12 December 2020

Treatment of intractable gastrointestinal manifestations of chronic granulomatous disease with cyclosporine

1 reference

12 December 2020

Molecular basis of opsonic defect in immunodeficient children

1 reference

12 December 2020

A single amino acid in the second Ig-like domain of the human Fc gamma receptor II is critical for human IgG2 binding

1 reference

12 December 2020

Outpatient management with oral corticosteroid therapy for obstructive conditions in chronic granulomatous disease

1 reference

12 December 2020

Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the CKR5 Structural Gene

1 reference

12 December 2020

Determination of neutrophil antigen gene frequencies in five ethnic groups by polymerase chain reaction with sequence-specific primers

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI5084

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

9854050

1 reference