Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease (Q36560000)

14 August 2017

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease (English)

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14 August 2017

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14 August 2017

Jean-Laurent Casanova

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14 August 2017

Mélanie Migaud

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Guillaume Vogt

Guillaume Vogt

2

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Ariane Chapgier

Ariane Chapgier

7

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Damien Chaussabel

Damien Chaussabel

22

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Laurent Abel

Laurent Abel

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Stephanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

25

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Jacinta Bustamante

Jacinta Bustamante

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Satoshi Okada

Satoshi Okada

11

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Avinash Abhyankar

8

Avinash Abhyankar

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14 August 2017

1

Xiao-Fei Kong

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14 August 2017

Marcela Moncada-Vélez

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Marcela Moncada-Vélez

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14 August 2017

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Sulaiman Al-Ajaji

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14 August 2017

3

Yuval Itan

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14 August 2017

Anna Macura-Biegun

4

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14 August 2017

Anna Szaflarska

5

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14 August 2017

Danuta Kowalczyk

6

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14 August 2017

Dieter Furthner

9

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14 August 2017

Claudia Djambas Khayat

10

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Vanessa L Bryant

12

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Dusan Bogunovic

13

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14 August 2017

Alexandra Kreins

14

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14 August 2017

Saleh Al-Muhsen

18

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14 August 2017

Steven M Holland

19

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16 November 2012

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14 August 2017

Human Molecular Genetics

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22

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769-781

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describes a project that uses

14 August 2017

ImageQuant

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3554203/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

1 reference

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Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

30 September 2017

1 reference

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A novel STAT1 mutation associated with disseminated mycobacterial disease

30 September 2017

1 reference

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Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

30 September 2017

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In vitro differentiation of human macrophages with enhanced antimycobacterial activity

30 September 2017

1 reference

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Structural Linkage between Ligand Discrimination and Receptor Activation by Type I Interferons

30 September 2017

1 reference

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Stochastic receptor expression determines cell fate upon interferon treatment

30 September 2017

1 reference

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IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey

30 September 2017

1 reference

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IRF8 mutations and human dendritic-cell immunodeficiency

30 September 2017

1 reference

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Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

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

30 September 2017

1 reference

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Whole-exome-sequencing-based discovery of human FADD deficiency

30 September 2017

1 reference

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Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

30 September 2017

1 reference

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Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

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

30 September 2017

1 reference

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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

A partial form of recessive STAT1 deficiency in humans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Cell type-specific signaling in response to interferon-gamma.

30 September 2017

1 reference

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Host genetics of mycobacterial diseases in mice and men: forward genetic studies of BCG-osis and tuberculosis

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states

30 September 2017

1 reference

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The human model: a genetic dissection of immunity to infection in natural conditions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Genetic dissection of immunity to mycobacteria: the human model

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

The IFN gamma receptor: a paradigm for cytokine receptor signaling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Ligand-induced assembly and activation of the gamma interferon receptor in intact cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Interaction between the components of the interferon gamma receptor complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Ligand-induced autoregulation of IFN-gamma receptor beta chain expression in T helper cell subsets

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Tuberculosis in children and adults: two distinct genetic diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554203

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDS484

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDS484

Anti-proliferative effect of IFN-gamma in immune regulation. II. IFN-gamma inhibits the proliferation of murine bone marrow cells stimulated with IL-3, IL-4, or granulocyte-macrophage colony-stimulating factor

21 January 2018

1 reference

12 December 2020

Lack of interferon gamma receptor beta chain and the prevention of interferon gamma signaling in TH1 cells

1 reference

12 December 2020

MxA induction may predict sustained virologic responses of chronic hepatitis B patients with IFN-alpha treatment

1 reference

12 December 2020

Interferon-gamma receptor 2 expression as the deciding factor in human T, B, and myeloid cell proliferation or death

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDS484

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

23161749

1 reference