Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. (Q37360655)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11753820%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

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

1 reference

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5 December 2019

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5 December 2019

Laurent Abel

23

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5 December 2019

Jean-Laurent Casanova

24

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Claire Soudais

8

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Emmanuelle Génin

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6

Jacqueline Feinberg

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2

Claire Fieschi

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15

Husn Frayha

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16

Belinda Murugasu

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Suliman Al-Jumaah

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Ibrahim Zaid Al-Mohsen

9

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Ibrahim Zaid Al-Mohsen

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5 December 2019

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22

Haysam Tufenkeji

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Abdulaziz Al-Ghonaium

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Abdulaziz Al-Ghonaium

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13

Tony Leclerc

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5 December 2019

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Frédéric Altare

3

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Sami Al-Hajjar

5

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Stéphanie Dupuis

7

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David Lammas

11

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Dinakantha S Kumararatne

12

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Arash Rafii

14

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Lee Bee Wah

17

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Raja Sinniah

18

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Michael Loubser

19

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Emi Okamoto

20

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language of work or name

English

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publication date

17 December 2001

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American Journal of Human Genetics

5 December 2019

published in

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volume

70

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issue

2

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5 December 2019

page(s)

336-348

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5 December 2019

cites work

Estimating allele age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Residual type 1 immunity in patients genetically deficient for interleukin 12 receptor beta1 (IL-12Rbeta1): evidence for an IL-12Rbeta1-independent pathway of IL-12 responsiveness in human T cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Genetic predisposition to clinical tuberculosis: bridging the gap between simple and complex inheritance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Estimating the age of mutant disease alleles based on linkage disequilibrium

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Interleukin 12 (IL-12) is crucial to the development of protective immunity in mice intravenously infected with mycobacterium tuberculosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

The molecular phylogeny and systematics of the actinomycetes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Interleukin-12 is essential for a protective Th1 response in mice infected with Cryptococcus neoformans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

IL-12-Independent costimulation pathways for interferon-gamma production in familial disseminated Mycobacterium avium complex infection

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Interleukin-12 primes CD4+ T cells for interferon-gamma production and protective immunity during Mycobacterium avium infection.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Respiratory syncytial virus infection in patients with phagocyte defects

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Lack of both types 1 and 2 cytokines, tissue inflammatory responses, and immune protection during pulmonary infection by Mycobacterium bovis bacille Calmette-Guérin in IL-12-deficient mice.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

IL-12 promotes drug-induced clearance of Mycobacterium avium infection in mice.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

Genetically resistant mice lacking interleukin-12 are susceptible to infection with Leishmania major and mount a polarized Th2 cell response.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384913

RecurrentMycobacterium aviumOsteomyelitis Associated With a Novel Dominant Interferon Gamma Receptor Mutation

3 December 2018

1 reference

12 December 2020

Disseminated BCG infection--a case report

1 reference

12 December 2020

Immunological conditions of children with BCG disseminated infection

1 reference

12 December 2020

IL-12-deficient mice are defective in IFN gamma production and type 1 cytokine responses

1 reference

12 December 2020

Defective monocyte costimulation for IFN-gamma production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation

1 reference

12 December 2020

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

1 reference

12 December 2020

Interleukin-12: a cytokine at the interface of inflammation and immunity

1 reference

12 December 2020

Viral infections in interferon-gamma receptor deficiency

1 reference

12 December 2020

Disseminated bacille Calmette-Guérin infection in an infant with a novel deletion in the interferon-gamma receptor gene

1 reference

12 December 2020

MYCOBACTERIUM FORTUITUM-CHELONAE COMPLEX INFECTION IN A CHILD WITH COMPLETE INTERLEUKIN-12 RECEPTOR BETA 1 DEFICIENCY

1 reference

12 December 2020

Residual Type 1 Immunity in Patients Genetically Deficient for Interleukin 12 Receptor β1 (IL-12Rβ1)

1 reference

12 December 2020

Identifiers

DOI

10.1086/338625

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11753820%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference

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5 December 2019

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