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Inherited disorders of IL-12- and IFNγ-mediated immunity: a molecular genetics update
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Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
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8 November 2019
title
Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
main subject
molecular genetics
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author
Jean-Laurent Casanova
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
author name string
R Döffinger
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
S Dupuis
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
C Picard
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
C Fieschi
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
J Feinberg
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
G Barcenas-Morales
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
publication date
1 May 2002
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
published in
Molecular Immunology
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
volume
38
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
issue
12-13
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
page(s)
903-909
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
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Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency
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A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child
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7 January 2021
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Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection
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Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis
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The IFN gamma receptor: a paradigm for cytokine receptor signaling
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Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients
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7 January 2021
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Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection
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7 January 2021
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Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection
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7 January 2021
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Interferon-gamma and interleukin-12 pathway defects and human disease
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7 January 2021
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Viral infections in interferon-gamma receptor deficiency
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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
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Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion
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Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation
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Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection
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IL-12-Independent costimulation pathways for interferon-gamma production in familial disseminated Mycobacterium avium complex infection
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Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency
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7 January 2021
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inferred from DOI database lookup
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection
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reference URL
https://api.crossref.org/works/10.1016%2FS0161-5890%2802%2900017-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis
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7 January 2021
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A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
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7 January 2021
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In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma
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7 January 2021
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7 January 2021
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Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?
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7 January 2021
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A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection
1 reference
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.
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7 January 2021
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Fatal Disseminated Mycobacterium smegmatis Infection in a Child with Inherited Interferon Receptor Deficiency
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7 January 2021
based on heuristic
inferred from DOI database lookup
Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0161-5890%2802%2900017-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0161-5890%2802%2900017-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
RecurrentMycobacterium aviumOsteomyelitis Associated With a Novel Dominant Interferon Gamma Receptor Mutation
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0161-5890(02)00017-2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
PubMed publication ID
12009568
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12009568
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12009568%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
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