(Q36901678)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23534974%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome (English)

1 reference

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27 February 2020

10

1 reference

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27 February 2020

Ahmed M. Gharib

16

1 reference

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27 February 2020

Eleonora Gambineri

19

1 reference

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27 February 2020

1

Gulbu Uzel

1 reference

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27 February 2020

author name string

Elizabeth P Sampaio

2

1 reference

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27 February 2020

Monica G Lawrence

3

1 reference

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27 February 2020

Amy P Hsu

4

1 reference

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27 February 2020

Mary Hackett

5

1 reference

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27 February 2020

Morna J Dorsey

6

1 reference

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27 February 2020

Richard J Noel

7

1 reference

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27 February 2020

James W Verbsky

8

1 reference

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27 February 2020

Alexandra F Freeman

9

1 reference

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27 February 2020

Francisco A Bonilla

11

1 reference

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27 February 2020

Joseph Pechacek

12

1 reference

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27 February 2020

Prabha Chandrasekaran

13

1 reference

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27 February 2020

Sarah K Browne

14

1 reference

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27 February 2020

Anahita Agharahimi

15

1 reference

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27 February 2020

Sara C Mannurita

17

1 reference

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27 February 2020

Jae Joon Yim

18

1 reference

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27 February 2020

Troy Torgerson

20

1 reference

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27 February 2020

Dat Q Tran

21

1 reference

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27 February 2020

Joshua D Milner

22

1 reference

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27 February 2020

Steven M Holland

23

1 reference

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27 February 2020

language of work or name

English

0 references

publication date

25 March 2013

1 reference

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The Journal of Allergy and Clinical Immunology

27 February 2020

published in

1 reference

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27 February 2020

volume

131

1 reference

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27 February 2020

issue

6

1 reference

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27 February 2020

page(s)

1611-1623

1 reference

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Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity

27 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

STAT5b deficiency: an unsuspected cause of growth failure, immunodeficiency, and severe pulmonary disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Plasticity of human regulatory T cells in healthy subjects and patients with type 1 diabetes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Expression of Helios, an Ikaros transcription factor family member, differentiates thymic-derived from peripherally induced Foxp3+ T regulatory cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Regulatory T cells in primary immunodeficiency diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Induction of FOXP3 expression in naive human CD4+FOXP3 T cells by T-cell receptor stimulation is transforming growth factor-beta dependent but does not confer a regulatory phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Blocking the NOTCH pathway inhibits vascular inflammation in large-vessel vasculitis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Determination of human anticytokine autoantibody profiles using a particle-based approach.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672257

Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23534974

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Growth hormone insensitivity associated with a STAT5b mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23534974

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2012.11.054

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23534974%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23534974%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

PubMed publication ID

23534974

1 reference