(Q36480090)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

chronic mucocutaneous candidiasis

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Rainer Doffinger

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

Effrossyni Gkrania-Klotsas

1 March 2020

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Anne-Bine Skytte

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

11

Tim Niehues

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

18

Moshe Ben-Shoshan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Mark Depner

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jan Raabe

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Natalie Frede

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Cristina Glocker

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Dinakantha Kumararatne

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

T Prescott Atkinson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Harry W Schroeder

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Gregor Dückers

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Asbjørg Stray-Pedersen

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Ulrich Baumann

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Reinhold Schmidt

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jose L Franco

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Julio Orrego

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Christine McCusker

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Cristina Miuki Abe Jacob

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Magda Carneiro-Sampaio

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Lisa A Devlin

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

J David M Edgar

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Paul Henderson

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Richard K Russell

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Suranjith L Seneviratne

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jennifer Wanders

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Hans Stauss

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Isabelle Meyts

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Leen Moens

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Milos Jesenak

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Robin Kobbe

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Stephan Borte

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Michael Borte

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Dowain A Wright

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

David Hagin

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Troy R Torgerson

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Bodo Grimbacher

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

publication date

25 November 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Immunology

1 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

73-84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

1 March 2020

copyright license

start time

25 November 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s10875-015-0214-9

0 references

cites work

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Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

30 September 2017

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An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis

30 September 2017

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New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

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

30 September 2017

1 reference

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Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival.

30 September 2017

1 reference

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Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

30 September 2017

1 reference

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30 September 2017

1 reference

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Th17 cells in immunity to Candida albicans

30 September 2017

1 reference

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Cell-type-specific expression of STAT transcription factors in tissue samples from patients with lymphocytic thyroiditis

30 September 2017

1 reference

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STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis

30 September 2017

1 reference

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

30 September 2017

1 reference

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30 September 2017

1 reference

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

30 September 2017

1 reference

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Chronic mucocutaneous candidiasis, from bench to bedside

30 September 2017

1 reference

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Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

30 September 2017

1 reference

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Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

30 September 2017

1 reference

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

30 September 2017

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

30 September 2017

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30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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New perspectives on the immunology of chronic mucocutaneous candidiasis

30 September 2017

1 reference

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An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family

30 September 2017

1 reference

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Chronic mucocutaneous candidiasis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718942

Thyrotropin induces SOCS-1 (suppressor of cytokine signaling-1) and SOCS-3 in FRTL-5 thyroid cells

30 September 2017

1 reference

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Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718942

Autoantibodies to IL-17A may be correlated with the severity of mucocutaneous candidiasis in APECED patients

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718942

Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation.

28 June 2018

1 reference

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Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718942

IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718942

Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718942

A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718942

Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718942

Herpes in STAT1 gain-of-function mutation [corrected].

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718942

Intracranial aneurysm associated with chronic mucocutaneous candidiasis

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718942

Cerebral vasculitis associated with chronic mucocutaneous candidiasis.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4718942

Autosomal-Dominant Chronic Mucocutaneous Candidiasis with STAT1-Mutation can be Complicated with Chronic Active Hepatitis and Hypothyroidism

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10875-015-0214-9

Chronic mucocutaneous candidiasis and primary hypothyroidism in two families

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26604104

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26604104

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10875-015-0214-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

26604104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26604104%20AND%20SRC:MED&resulttype=core&format=json