(Q37215141)

19 August 2017

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation (English)

1 reference

19 August 2017

1 reference

Jean-Laurent Casanova

24

1 reference

19 August 2017

Quentin B Vincent

8

0 references

Mélanie Migaud

Mélanie Migaud

16

0 references

Guillaume Vogt

Guillaume Vogt

Francisco Espinosa-Rosales

23

0 references

Francisco Espinosa-Rosales

19

0 references

Bertrand Boisson

Bertrand Boisson

9

0 references

Güzide Aksu

Guzide Aksu

7

0 references

Laurent Abel

Laurent Abel

21

0 references

Stephanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

25

0 references

Jacinta Bustamante

Jacinta Bustamante

22

0 references

Satoshi Okada

Satoshi Okada

12

0 references

Necil Kutukculer

20

Necil Kutukculer

1 reference

19 August 2017

13

Alexandra Y Kreins

1 reference

19 August 2017

4

Xiao-Fei Kong

1 reference

19 August 2017

Sara Espinosa-Padilla

17

Sara Espinosa-Padilla

1 reference

19 August 2017

Marcela Moncada-Vélez

1

Marcela Moncada-Vélez

1 reference

19 August 2017

11

Noé Ramírez-Alejo

1 reference

19 August 2017

10

Yuval Itan

1 reference

19 August 2017

Rubén Martinez-Barricarte

2

1 reference

19 August 2017

Dusan Bogunovic

3

1 reference

19 August 2017

Lizbeth Blancas-Galicia

5

1 reference

19 August 2017

Cengiz Tirpan

6

1 reference

19 August 2017

Vanessa L Bryant

14

1 reference

19 August 2017

Jose Luis Franco

15

1 reference

19 August 2017

Marco Yamazaki-Nakashimada

18

1 reference

19 August 2017

language of work or name

English

0 references

publication date

20 August 2013

1 reference

19 August 2017

1 reference

19 August 2017

122

1 reference

19 August 2017

14

1 reference

19 August 2017

2390-2401

1 reference

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Unassembled CD147 is an endogenous endoplasmic reticulum-associated degradation substrate

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 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=3790508

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Inhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Recent insights into the pathobiology of innate immune deficiencies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

IRF8 mutations and human dendritic-cell 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=3790508

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 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=3790508

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Primary immunodeficiencies: a field in its infancy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Gain-of-glycosylation mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Seeing the light: preassembly and ligand-induced changes of the interferon gamma receptor complex in 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=3790508

Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Genetic dissection of immunity to mycobacteria: the human model

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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=3790508

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=3790508

How cells respond to interferons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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=3790508

The interferon gamma (IFN-gamma) receptor: a paradigm for the multichain cytokine receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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=3790508

The IFN gamma receptor: a paradigm for cytokine receptor signaling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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=3790508

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=3790508

Effect of amino acid substitutions in the human IFN-γR2 on IFN-γ responsiveness

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Tuberculosis in children and adults: two distinct genetic diseases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-gamma receptor-1 deficiency

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

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

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790508

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

4 December 2018

1 reference

12 December 2020

Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin (IL)-12/IL-23 Receptor

1 reference

12 December 2020

Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1182/BLOOD-2013-01-480814

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

23963039

1 reference