(Q34728784)

4 August 2017

title

Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES). (English)

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4 August 2017

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Jennifer Heimall

1

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4 August 2017

Joie Davis

2

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4 August 2017

Pamela A Shaw

3

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4 August 2017

Amy P Hsu

4

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4 August 2017

Wenjuan Gu

5

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4 August 2017

Pam Welch

6

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4 August 2017

Steven M Holland

7

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4 August 2017

Alexandra F Freeman

8

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4 August 2017

publication date

14 January 2011

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4 August 2017

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4 August 2017

volume

139

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4 August 2017

issue

1

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4 August 2017

page(s)

75-84

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Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

4 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

STAT3 mutations in the hyper-IgE syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

STAT3 nuclear import is independent of tyrosine phosphorylation and mediated by importin-alpha3.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

7 July 2018

The hyper-IgE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

Extreme hyperimmunoglobulinemia E and undue susceptibility to infection

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

Craniosynostosis in hyper-IgE-syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

Hyperimmunoglobulinemia E syndrome associated with coronary artery aneurysms: deficiency of central memory CD4+ T cells and expansion of effector memory CD4+ T cells.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

Brain abnormalities in patients with hyperimmunoglobulin E syndrome

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

Job's Syndrome. Recurrent, "cold", staphylococcal abscesses

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

Cranial synostosis in Job's syndrome

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065511

10.1016/J.CLIM.2011.01.001

26 October 2018

Identifiers

DOI

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4 August 2017

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4 August 2017

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