Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia (Q41921141)

14 October 2017

title

Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia (English)

1 reference

14 October 2017

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Glynis Frans

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Jutte van der Werff Ten Bosch

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Leen Moens

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Rik Gijsbers

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Majid Changi-Ashtiani

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Mohammad Shahrooei

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Greet Wuyts

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Isabelle Meyts

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Xavier Bossuyt

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

publication date

10 October 2017

1 reference

Journal of Clinical Immunology

14 October 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

8

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2 June 2020

page(s)

801-810

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28993958%20AND%20SRC:MED&resulttype=core&format=json

Phosphorylation meets ubiquitination: the control of NF-[kappa]B activity

2 June 2020

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IkappaB kinase complexes: gateways to NF-kappaB activation and transcription

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Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation

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The range of defects associated with nuclear factor kappaB essential modulator

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Mutations in the NF-kappaB signaling pathway: implications for human disease

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Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

21 January 2018

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EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation

21 January 2018

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Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

21 January 2018

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Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses

21 January 2018

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Defects in the interferon-gamma and interleukin-12 pathways

21 January 2018

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X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

21 January 2018

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The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

21 January 2018

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Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

21 January 2018

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IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

21 January 2018

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Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia

21 January 2018

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The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation

21 January 2018

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Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.

21 January 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

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The Sequence Alignment/Map format and SAMtools

21 January 2018

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The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

21 January 2018

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Highly efficient multicistronic lentiviral vectors with peptide 2A sequences

21 January 2018

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A novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema

21 January 2018

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Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.

21 January 2018

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 January 2018

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The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

21 January 2018

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TACI is mutant in common variable immunodeficiency and IgA deficiency

21 January 2018

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Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations

21 January 2018

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EDA signaling and skin appendage development

21 January 2018

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Dimerization of the I kappa B kinase-binding domain of NEMO is required for tumor necrosis factor alpha-induced NF-kappa B activity

21 January 2018

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Structure of a NEMO/IKK-associating domain reveals architecture of the interaction site

21 January 2018

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Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology

21 January 2018

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Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

21 January 2018

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NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth

21 January 2018

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Hereditary complement C7 deficiency in nine families: Subtotal C7 deficiency revisited

21 January 2018

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Optimal assessment of the ability of children with recurrent respiratory tract infections to produce anti-polysaccharide antibodies

21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/28993958

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kappaB essential modulator mutation, with or without ectodermal dysplasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28993958