Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations (Q28250725)

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22 February 2020

title

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations (English)

1 reference

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22 February 2020

0 references

6

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22 February 2020

Jonathan J. Lyons

7

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22 February 2020

Elisha Roberson

11

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22 February 2020

Kenneth L McClain

17

1 reference

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22 February 2020

Emily M. Mace

21

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22 February 2020

Michael P. O'Connell

25

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22 February 2020

Daniel C Swan

32

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22 February 2020

Yaobo Xu

33

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22 February 2020

Stephen F Kingsmore

40

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22 February 2020

author name string

Joshua D Milner

1

1 reference

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22 February 2020

Tiphanie P Vogel

2

1 reference

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22 February 2020

Lisa Forbes

3

1 reference

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22 February 2020

Chi A Ma

4

1 reference

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22 February 2020

Asbjørg Stray-Pedersen

5

1 reference

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22 February 2020

Karin R Engelhardt

8

1 reference

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22 February 2020

Yu Zhang

9

1 reference

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22 February 2020

Nermina Topcagic

10

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22 February 2020

Helen Matthews

12

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22 February 2020

James W Verbsky

13

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22 February 2020

Trivikram Dasu

14

1 reference

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22 February 2020

Alexander Vargas-Hernandez

15

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Nidhy Varghese

16

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22 February 2020

Lina B Karam

18

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22 February 2020

Karen Nahmod

19

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22 February 2020

George Makedonas

20

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22 February 2020

Hanne S Sorte

22

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22 February 2020

Gøri Perminow

23

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22 February 2020

V Koneti Rao

24

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22 February 2020

Susan Price

26

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22 February 2020

Helen C Su

27

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22 February 2020

Morgan Butrick

28

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22 February 2020

Joshua McElwee

29

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22 February 2020

Jason D Hughes

30

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22 February 2020

Joseph Willet

31

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22 February 2020

Voytek Slowik

35

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22 February 2020

Darrell L Dinwiddie

36

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22 February 2020

Christina E Ciaccio

37

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22 February 2020

Carol J Saunders

38

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22 February 2020

Seth Septer

39

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22 February 2020

Andrew J White

41

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22 February 2020

Andrew J Cant

42

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22 February 2020

Sophie Hambleton

43

1 reference

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22 February 2020

Megan A Cooper

44

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22 February 2020

Mauro Santibanez-Koref

34

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22 February 2020

language of work or name

English

0 references

publication date

30 October 2014

1 reference

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22 February 2020

1 reference

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22 February 2020

volume

125

1 reference

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22 February 2020

page(s)

591-599

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22 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25359994%20AND%20SRC:MED&resulttype=core&format=json

Somatic STAT3 mutations in large granular lymphocytic leukemia

22 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=4304103

STAT3 mutations in the hyper-IgE syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

Stats: transcriptional control and biological impact

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

Elevated double negative T cells in pediatric 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=4304103

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune 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=4304103

STAT1 and STAT3 in tumorigenesis: A matter of balance.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

STAT3 mutations indicate the presence of subclinical T-cell clones in a subset of aplastic anemia and myelodysplastic syndrome patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

Forkhead box protein 3 in human nasal polyp regulatory T cells is regulated by the protein suppressor of cytokine signaling 3.

29 September 2017

1 reference

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Exacerbated inflammatory arthritis in response to hyperactive gp130 signalling is independent of IL-17A.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

JAKs and STATs in immunity, immunodeficiency, and cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

The STAT5b Pathway Defect and 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=4304103

IL-6, IL-17 and STAT3: a holy trinity in auto-immunity?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

Inborn errors of human JAKs and STATs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

A novel STAT1 mutation associated with disseminated mycobacterial 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=4304103

29 September 2017

Monogenic autoimmunity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

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=4304103

Reversible methylation of promoter-bound STAT3 by histone-modifying enzymes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

Suppressors of cytokine signaling (SOCS) in T cell differentiation, maturation, and function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

Signal transducer and activator of transcription proteins in leukemias.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

Mutations in Fas associated with human lymphoproliferative syndrome and 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=4304103

Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

Deficient SOCS3 expression in CD4+CD25+FoxP3+ regulatory T cells and SOCS3-mediated suppression of Treg function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304103

Growth hormone insensitivity associated with a STAT5b mutation

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25359994

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2014-09-602763

2 references

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22 February 2020

1 reference

2 references

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22 February 2020

2 references

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