Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO).

about

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation.

P2860

Q26862947-5D84D6FB-1F26-4E95-AC72-EB1C64F8F869 Q37287975-E6E80785-2849-43DE-9117-FD4C6F017FD8

P2860

Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO).

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http://www.wikidata.org/entity/Q42221403

description

2014 nî lūn-bûn

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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2014年论文

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2014年论文

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name

Correlating interleukin-12 sti ...... κB essential modulator (NEMO).

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Correlating interleukin-12 sti ...... ermal dysplasia and anhidrosis

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type

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Correlating interleukin-12 sti ...... κB essential modulator (NEMO).

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Correlating interleukin-12 sti ...... ermal dysplasia and anhidrosis

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Correlating interleukin-12 sti ...... κB essential modulator (NEMO).

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Correlating interleukin-12 sti ...... ermal dysplasia and anhidrosis

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P1476

Correlating interleukin-12 sti ...... κB essential modulator (NEMO).

@en

P2093

Ashish Jain

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Beatriz E Marciano

http://www.w3.org/2001/XMLSchema#string

David M Frucht

http://www.w3.org/2001/XMLSchema#string

Margje H Haverkamp

http://www.w3.org/2001/XMLSchema#string

Steven M Holland

http://www.w3.org/2001/XMLSchema#string

P2860

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

Structural Basis for Recognition of Diubiquitins by NEMO

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

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

Regulation and function of NF-kappaB transcription factors in the immune system

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

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

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

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

Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene

P2888

s10875-014-9998-2

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436-443

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scholarly article

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10.1007/S10875-014-9998-2

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Esther van de Vosse

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2014-02-28T00:00:00Z

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1032941364

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24682681

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P921

NF-κB

Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO).

about

P2860

P2860

Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO).

description

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type

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P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

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P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

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P698

P921