Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases. (Q34809934)

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English	Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.	scientific article

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scholarly article

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22 January 2020

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Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases (English)

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22 January 2020

1

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22 January 2020

Susan Fisher-Hoch

2

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Susan P Fisher-Hoch

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22 January 2020

author name string

Joseph B McCormick

3

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publication date

16 February 2011

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22 January 2020

International Journal of Infectious Diseases

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22 January 2020

15

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22 January 2020

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22 January 2020

e305-13

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22 January 2020

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

1 reference

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8 July 2018

Interplay between influenza A virus and the innate immune signaling

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IFNGR1 polymorphisms in Thai malaria patients

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Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency

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A regulatory polymorphism in interferon-gamma receptor 1 promoter is associated with the susceptibility to chronic hepatitis B virus infection.

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A partial form of recessive STAT1 deficiency in humans

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IFNG and IFNGR1 gene polymorphisms and susceptibility to post-kala-azar dermal leishmaniasis in Sudan

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Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

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8 July 2018

Posttranslational modifications of NEMO and its partners in NF-kappaB signaling

1 reference

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8 July 2018

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

1 reference

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8 July 2018

Neutralization or absence of the interleukin-23 pathway does not compromise immunity to mycobacterial infection

1 reference

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8 July 2018

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

1 reference

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8 July 2018

Reciprocal developmental pathways for the generation of pathogenic effector TH17 and regulatory T cells

1 reference

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8 July 2018

Effect of BCG vaccination on childhood tuberculous meningitis and miliary tuberculosis worldwide: a meta-analysis and assessment of cost-effectiveness

1 reference

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8 July 2018

Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo

1 reference

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8 July 2018

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

1 reference

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8 July 2018

Control of human host immunity to mycobacteria.

1 reference

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8 July 2018

Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation

1 reference

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8 July 2018

Activation of transcription factor NF-kappaB requires ELKS, an IkappaB kinase regulatory subunit

1 reference

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8 July 2018

The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation

1 reference

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8 July 2018

Human IL-23-producing type 1 macrophages promote but IL-10-producing type 2 macrophages subvert immunity to (myco)bacteria

1 reference

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8 July 2018

Immunity to tuberculosis

1 reference

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8 July 2018

5'-untranslated regions with multiple upstream AUG codons can support low-level translation via leaky scanning and reinitiation

1 reference

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8 July 2018

Human alveolar macrophages infected by virulent bacteria expressing SipB are a major source of active interleukin-18

1 reference

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8 July 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

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8 July 2018

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

1 reference

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8 July 2018

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

1 reference

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8 July 2018

Fever and leg pain in a 42-month-old

1 reference

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8 July 2018

A unified theory of gene expression

1 reference

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8 July 2018

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

Prediction of deleterious human alleles

1 reference

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

Charged residues dominate a unique interlocking topography in the heterodimeric cytokine interleukin-12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

The interleukin-12/interleukin-12-receptor system: role in normal and pathologic immune responses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

The IFN gamma receptor: a paradigm for cytokine receptor signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

Differential associations between the cytoplasmic regions of the interleukin-12 receptor subunits beta1 and beta2 and JAK kinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

8 July 2018

Idiopathic disseminated bacillus Calmette-Guérin infection: a French national retrospective study

1 reference

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8 July 2018

Alignment of disulfide bonds of the extracellular domain of the interferon gamma receptor and investigation of their role in biological activity

1 reference

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Protective effect of BCG against tuberculous meningitis and miliary tuberculosis: a meta-analysis

1 reference

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8 July 2018

Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?

1 reference

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8 July 2018

Crystal structure of a complex between interferon-gamma and its soluble high-affinity receptor

1 reference

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8 July 2018

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

1 reference

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8 July 2018

Comparative statistics for DNA and protein sequences: multiple sequence analysis

1 reference

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1 reference

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8 July 2018

Exhaustive matching of the entire protein sequence database

1 reference

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8 July 2018

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1 reference

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26 October 2018

Protection from direct cerebral cryptococcus infection by interferon-gamma-dependent activation of microglial cells.

1 reference

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26 October 2018

A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

26 October 2018

Preassembly and ligand-induced restructuring of the chains of the IFN-gamma receptor complex: the roles of Jak kinases, Stat1 and the receptor chains.

1 reference

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26 October 2018

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1 reference

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26 October 2018

Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

26 October 2018

BCG vaccine. WHO position paper

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

26 October 2018

Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

26 October 2018

Familial disseminated infection due to atypical mycobacteria with childhood onset

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

26 October 2018

A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078969

26 October 2018

Two patients with complete defects in interferon gamma receptor-dependent signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-domain-dependent nonphosphorylated STAT4 dimers required for cytokine-driven activation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatal Disseminated Mycobacterium smegmatis Infection in a Child with Inherited Interferon Receptor Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RecurrentMycobacterium aviumOsteomyelitis Associated With a Novel Dominant Interferon Gamma Receptor Mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin (IL)-12/IL-23 Receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Associations of the IL2Ralpha, IL4Ralpha, IL10Ralpha, and IFN (gamma) R1 cytokine receptor genes with AIDS progression in a French AIDS cohort

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cutting edge: IFN-gamma regulates the induction and expansion of IL-17-producing CD4 T cells during mycobacterial infection

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel Mutation in the Interferon-γ-Receptor Gene and Susceptibility to Mycobacterial Infections

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence similarity between NKSF and the IL-6/G-CSF family

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multifocal M. intracellulare osteomyelitis in an immunocompetent child

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of BCG vaccine in the prevention and control of tuberculosis in the United States. A joint statement by the Advisory Council for the Elimination of Tuberculosis and the Advisory Committee on Immunization Practices

1 reference

https://pubmed.ncbi.nlm.nih.gov/21330176

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.IJID.2011.01.004

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Europe PubMed Central

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22 January 2020

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Europe PubMed Central

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22 January 2020

1 reference

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22 January 2020

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