A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. (Q40939863)

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scientific article published on 22 October 2015

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English	A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.	scientific article published on 22 October 2015

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scholarly article

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28 February 2020

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis (English)

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28 February 2020

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chronic mucocutaneous candidiasis

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1 reference

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Mette Christiansen

5

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28 February 2020

author name string

Jakob Nielsen

1

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28 February 2020

Emil Kofod-Olsen

2

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28 February 2020

Eva Spaun

3

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28 February 2020

Carsten S Larsen

4

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28 February 2020

Trine Hyrup Mogensen

6

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28 February 2020

publication date

22 October 2015

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28 February 2020

BMJ case reports

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28 February 2020

2015

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28 February 2020

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

TH17 deficiency in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

C-type lectins, fungi and Th17 responses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

IL-23 and IL-17A, but not IL-12 and IL-22, are required for optimal skin host defense against Candida albicans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

Innate IL-17-producing cells: the sentinels of the immune system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

Immunodeficiency due to mutations in ORAI1 and STIM1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

Combined immunodeficiency associated with DOCK8 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

Dermatophytosis in patients with chronic mucocutaneous candidiasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

Non-candidal infections in children with chronic mucocutaneous candidiasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

17 June 2018

IRF8 mutations and human dendritic-cell immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

17 June 2018

New perspectives on the immunology of chronic mucocutaneous candidiasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

17 June 2018

STAT1 expression and activation is increased in lesional psoriatic skin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

19 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

19 August 2018

IFN-beta inhibits human Th17 cell differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

19 August 2018

IL-27 blocks RORc expression to inhibit lineage commitment of Th17 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

19 August 2018

Altered, but not diminished specific T cell response in chronic mucocutaneous candidiasis patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

19 August 2018

Intracranial aneurysm associated with chronic mucocutaneous candidiasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

19 August 2018

Cerebral vasculitis associated with chronic mucocutaneous candidiasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

19 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4620220

2 December 2018

Unravelling fungal immunity through primary immune deficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/26494717

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant chronic mucocutaneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/26494717

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Case report: familial chronic mucocutaneous candidiasis complicated by deep candida infection

1 reference

https://pubmed.ncbi.nlm.nih.gov/26494717

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aneurysm associated with chronic mucocutaneous candidiasis during long-term therapy with ketoconazole

1 reference

https://pubmed.ncbi.nlm.nih.gov/26494717

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chronic mucocutaneous candidiasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/26494717

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chronic hyperplastic candidiasis and squamous carcinoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/26494717

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chronic mucocutaneous candidosis associated with hypothyroidism: a distinct syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/26494717

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/BCR-2015-211372

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Europe PubMed Central

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28 February 2020

PMC publication ID

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28 February 2020

PubMed publication ID

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28 February 2020

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