A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency (Q33998861)

30 July 2017

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

1 reference

Miguel Ángel García Pérez

30 July 2017

1 reference

ORCID Public Data File 2021

author name string

L M Allende

1

1 reference

30 July 2017

A López-Goyanes

2

1 reference

30 July 2017

E Paz-Artal

3

1 reference

30 July 2017

A Corell

4

1 reference

30 July 2017

M A García-Pérez

5

1 reference

30 July 2017

P Varela

6

1 reference

30 July 2017

A Scarpellini

7

1 reference

30 July 2017

S Negreira

8

1 reference

30 July 2017

E Palenque

9

1 reference

30 July 2017

A Arnaiz-Villena

10

1 reference

30 July 2017

1 January 2001

1 reference

Clinical and Vaccine Immunology

30 July 2017

1 reference

30 July 2017

8

1 reference

30 July 2017

1

1 reference

30 July 2017

133-137

1 reference

Immunodeficiency associated with anorexia nervosa is secondary and improves after refeeding

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Cellular responses to interferon-gamma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

The IFN gamma receptor: a paradigm for cytokine receptor signaling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Herpes virus saimiri transformation of T cells in CD3 gamma immunodeficiency: phenotypic and functional characterization.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

ProMod and Swiss-Model: Internet-based tools for automated comparative protein modelling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

The molecular cell biology of interferon-gamma and its receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Ligand-induced IFN gamma receptor tyrosine phosphorylation couples the receptor to its signal transduction system (p91)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Identification and sequence of an accessory factor required for activation of the human interferon gamma receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Early interleukin 12 production by macrophages in response to mycobacterial infection depends on interferon gamma and tumor necrosis factor alpha.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

The Jak kinases differentially associate with the alpha and beta (accessory factor) chains of the interferon gamma receptor to form a functional receptor unit capable of activating STAT transcription factors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Molecular cloning and expression of the human interferon-gamma receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

An in vivo functional immune system lacking polyclonal T-cell surface expression of the CD3/Ti(WT31) complex.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Exon-2 nucleotide sequences, polymorphism and haplotype distribution of a new HLA-DRB gene: HLA-DRB sigma.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Fatal disseminated osteomyelitis due to an anonymous mycobacterium.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=96022

Pulmonary infection due to Mycobacterium szulgai , case report and review of the literature

29 October 2018

1 reference

12 December 2020

Mendelian susceptibility to mycobacterial infection in man

1 reference

12 December 2020

Retinol (vitamin A) is a cofactor in CD3-induced human T-lymphocyte activation

1 reference

12 December 2020

A rapid, no-wash technic for immunophenotypic analysis by flow cytometry

1 reference

12 December 2020

High affinity human IFN-gamma-binding capacity is encoded by a single receptor gene located in proximity to c-ros on human chromosome region 6q16 to 6q22

1 reference

12 December 2020

10.1128/CDLI.8.1.133-137.2001

Identifiers

DOI

1 reference

30 July 2017

1 reference

30 July 2017

1 reference