(Q33921719)

30 July 2017

title

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism (English)

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30 July 2017

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12

Jennifer M Puck

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30 July 2017

Amy P Hsu

1

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30 July 2017

Kathryn J Sowerwine

2

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30 July 2017

Monica G Lawrence

3

1 reference

30 July 2017

Joie Davis

4

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30 July 2017

Carolyn J Henderson

5

1 reference

30 July 2017

Kol A Zarember

6

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30 July 2017

Mary Garofalo

7

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30 July 2017

John I Gallin

8

1 reference

30 July 2017

Douglas B Kuhns

9

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30 July 2017

Theo Heller

10

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30 July 2017

Joshua D Milner

11

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30 July 2017

Alexandra F Freeman

13

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30 July 2017

Steven M Holland

14

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30 July 2017

language of work or name

English

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publication date

25 April 2013

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The Journal of Allergy and Clinical Immunology

30 July 2017

published in

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30 July 2017

volume

131

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30 July 2017

issue

6

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30 July 2017

page(s)

1586-1593

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Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Molecular mechanisms of the immunological abnormalities in hyper-IgE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Th17 cells and IL-17 receptor signaling are essential for mucosal host defense against oral candidiasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Cytokine-mediated regulation of antimicrobial proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

STAT3 mutations in the hyper-IgE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

IL-22 increases the innate immunity of tissues

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Endogenous antimicrobial peptides and skin infections in atopic dermatitis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Extreme hyperimmunoglobulinemia E and undue susceptibility to infection

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Dynamics of the cellular and humoral components of the inflammatory response elicited in skin blisters in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Milder clinical hyperimmunoglobulin E syndrome phenotype is associated with partial interleukin-17 deficiency

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103905

Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES)

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23623265

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Assessing the delivery of neutrophils to tissues in neutropenia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23623265

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detection of intracellular cytokines by flow cytometry

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23623265

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2013.02.038

1 reference

30 July 2017

1 reference

30 July 2017

1 reference