(Q45345436)

13 December 2017

title

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy (English)

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13 December 2017

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13 December 2017

Jean-Laurent Casanova

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Tomas Hökfelt

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Nicholas Hubbard

object named as

Nicholas Hubbard

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Hans D. Ochs

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object named as

Hans D Ochs

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13 December 2017

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Hans-Peter Schwarz

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13 December 2017

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Lena F Schimke

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Troy R Torgerson

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13 December 2017

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Bernd H Belohradsky

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13 December 2017

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Stacey Rylaarsdam

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13 December 2017

Nikolaus Rieber

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13 December 2017

Otávio Cabral-Marques

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13 December 2017

Laura Kallmann

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13 December 2017

Stephanie Anover Sombke

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13 December 2017

Gundula Notheis

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13 December 2017

Birgit Kammer

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13 December 2017

Reinald Repp

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13 December 2017

Michael H Albert

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13 December 2017

Ellen D Renner

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13 December 2017

publication date

25 May 2013

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Journal of Clinical Immunology

13 December 2017

published in

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13 December 2017

volume

33

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13 December 2017

issue

6

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13 December 2017

page(s)

1088-1099

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Ectodermal dysplasia and immunodeficiency

13 December 2017

cites work

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https://api.crossref.org/works/10.1007%2FS10875-013-9906-1

Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.

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Inherited disorders of NF-kappaB-mediated immunity in man.

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

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The NF-kappaB signaling pathway in human genetic diseases

21 January 2018

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A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

21 January 2018

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A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

21 January 2018

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The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.

21 January 2018

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Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.

21 January 2018

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A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome

21 January 2018

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Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency

21 January 2018

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Mapping of the inducible IkappaB phosphorylation sites that signal its ubiquitination and degradation

21 January 2018

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Both amino- and carboxyl-terminal sequences within I kappa B alpha regulate its inducible degradation

21 January 2018

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Differential serine phosphorylation regulates IkappaB-alpha inactivation.

21 January 2018

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

21 January 2018

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Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

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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MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

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Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor

21 January 2018

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Rapid detection of octamer binding proteins with 'mini-extracts', prepared from a small number of cells

21 January 2018

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Coupling of a signal response domain in I kappa B alpha to multiple pathways for NF-kappa B activation

21 January 2018

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Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

21 January 2018

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Activation of the Interleukin-6 promoter by a dominant negative mutant of c-Jun

21 January 2018

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Rapidly progressing fatal adult multi-organ Langerhans cell histiocytosis complicated with fatty liver disease

21 January 2018

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A case of apparent hypopituitarism complicating chronic inflammatory bowel disease in childhood and adolescence

21 January 2018

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Autoimmune manifestations in primary immune deficiencies

21 January 2018

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Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation

21 January 2018

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Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency

21 January 2018

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Nuclear factor-κB in immunity and inflammation: the Treg and Th17 connection

21 January 2018

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FoxP3: a genetic link between immunodeficiency and autoimmune diseases

21 January 2018

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Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome

21 January 2018

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Mature T cells depend on signaling through the IKK complex.

21 January 2018

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Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation

21 January 2018

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NF-kappaB regulation in the immune system

21 January 2018

1 reference

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Th17 cells: effector T cells with inflammatory properties

21 January 2018

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Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

21 January 2018

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Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3

21 January 2018

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

21 January 2018

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Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

21 January 2018

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Severe Candida spp. infections: new insights into natural immunity

21 January 2018

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A homozygous CARD9 mutation in a family with susceptibility to fungal infections

21 January 2018

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C-type lectin receptor-induced NF-κB activation in innate immune and inflammatory responses

21 January 2018

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Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency.

21 January 2018

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Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency

21 January 2018

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Successful Allogeneic Hemopoietic Stem Cell Transplantation in a Child Who Had Anhidrotic Ectodermal Dysplasia With Immunodeficiency

21 January 2018

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Hypothalamo-pituitary dysfunction in patients with chronic subdural hematoma

21 January 2018

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12 December 2020

Biotin amplification of biotin and horseradish peroxidase signals in histochemical stains

1 reference

12 December 2020

Phosphorylation of human I kappa B-alpha on serines 32 and 36 controls I kappa B-alpha proteolysis and NF-kappa B activation in response to diverse stimuli

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12 December 2020

Lipopolysaccharide induces phosphorylation of MAD3 and activation of c-Rel and related NF-kappa B proteins in human monocytic THP-1 cells.

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12 December 2020

Severe growth retardation in children with inflammatory bowel disease

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12 December 2020

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

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12 December 2020

Regulation of NF-kappa B, AP-1, NFAT, and STAT1 nuclear import in T lymphocytes by noninvasive delivery of peptide carrying the nuclear localization sequence of NF-kappa B p50.

1 reference

12 December 2020

10.1007/S10875-013-9906-1

Identifiers

DOI

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Dimensions Publication ID

13 December 2017

1005058496

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