(Q35046817)

6 August 2017

title

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds (English)

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6 August 2017

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10

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32

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6 August 2017

Jean-Laurent Casanova

33

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6 August 2017

Estefanía Herrera-Ramos

Estefanía Herrera-Ramos

15

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Quentin B Vincent

Quentin Benoit Vincent

4

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Ariane Chapgier

Ariane Chapgier

6

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José Pestano

Jose Pestano

3

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Stephanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

2

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Jacinta Bustamante

Jacinta Bustamante

31

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Jacqueline Feinberg

8

Jacqueline Feinberg

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6 August 2017

11

Esther Santiago

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6 August 2017

24

Katia Abarca

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6 August 2017

14

Elena Colino

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6 August 2017

1

Ithaisa Sologuren

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6 August 2017

18

Stéphane Blanche

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6 August 2017

13

Lucile Jannière

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6 August 2017

Carlos Rodríguez-Gallego

34

Carlos Rodríguez-Gallego

1 reference

6 August 2017

author name string

Leandro Fernández-Pérez

5

1 reference

6 August 2017

María Cárdenes

7

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6 August 2017

M Isabel García-Laorden

9

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6 August 2017

Xiaofei Kong

12

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6 August 2017

Adela Francés

16

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6 August 2017

Carmen Navarrete

17

1 reference

6 August 2017

Emilia Faria

19

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6 August 2017

Pawel Remiszewski

20

1 reference

6 August 2017

Ana Cordeiro

21

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6 August 2017

Alexandra Freeman

22

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6 August 2017

Steven Holland

23

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6 August 2017

Mónica Valerón-Lemaur

25

1 reference

6 August 2017

José Gonçalo-Marques

26

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6 August 2017

Luisa Silveira

27

1 reference

6 August 2017

José Manuel García-Castellano

28

1 reference

6 August 2017

José Caminero

29

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6 August 2017

José Luis Pérez-Arellano

30

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6 August 2017

publication date

25 January 2011

1 reference

6 August 2017

published in

Human Molecular Genetics

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6 August 2017

volume

20

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6 August 2017

issue

8

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6 August 2017

page(s)

1509-1523

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Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Demographic history of Canary Islands male gene-pool: replacement of native lineages by European

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

A partial form of recessive STAT1 deficiency in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

A second generation human haplotype map of over 3.1 million SNPs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Primary immunodeficiencies: a field in its infancy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

A backbone-based theory of protein folding

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Human mitochondrial DNA diversity in an archaeological site in al-Andalus: genetic impact of migrations from North Africa in medieval Spain

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Tuberculosis in children and adults: two distinct genetic diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Defects in the interferon-gamma and interleukin-12 pathways

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Ancient mtDNA analysis and the origin of the Guanches

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Genetic dissection of immunity to mycobacteria: the human model

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Epidemiology and clinical features of Cryptosporidium infection in immunocompromised patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

The structure and activity of a monomeric interferon-gamma:alpha-chain receptor signaling complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Observation of an unexpected third receptor molecule in the crystal structure of human interferon-gamma receptor complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Profiles of healing and nonhealing Cryptosporidium parvum infection in C57BL/6 mice with functional B and T lymphocytes: the extent of gamma interferon modulation determines the outcome of infection

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

8 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

Temporal evolution of the ABO allele frequencies in the Canary Islands: the impact of the European colonization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

Hematopoietic stem cell transplantation for complete IFN-γ receptor 1 deficiency: A multi-institutional survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

mtDNA tree Build 17 (18 Feb 2016)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

Signature of recent historical events in the European Y-chromosomal STR haplotype distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

Y chromosome haplotype reference database (YHRD): update

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

Interferon-gamma is required for innate immunity to Cryptosporidium parvum in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR029

Meningoencephalitis caused by varicella-zoster virus reactivation in a child with dominant partial interferon-gamma receptor-1 deficiency

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115578

Detection of intracellular phosphorylated STAT-1 by flow cytometry

25 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21266457

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Viral infections in interferon-gamma receptor deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21266457

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21266457

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR029

1 reference

6 August 2017

1 reference

6 August 2017

1 reference