Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis (Q37644982)

21 August 2017

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

1 reference

chronic mucocutaneous candidiasis

21 August 2017

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1 reference

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author

Anne Puel

21

1 reference

21 August 2017

Jean-Laurent Casanova

22

1 reference

21 August 2017

Tetsuya Okazaki

13

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Stephanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

20

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Satoshi Okada

Satoshi Okada

3

0 references

Tomohiro Morio

Tomohiro Morio

23

0 references

Xiao-Fei Kong

18

Xiao-Fei Kong

1 reference

21 August 2017

2

Miyuki Tsumura

1 reference

21 August 2017

6

Kohsuke Imai

1 reference

21 August 2017

1

Yoko Mizoguchi

1 reference

21 August 2017

19

Sophie Cypowyj

1 reference

21 August 2017

Osamu Hirata

4

1 reference

21 August 2017

Shizuko Minegishi

5

1 reference

21 August 2017

Nobuyuki Hyakuna

7

1 reference

21 August 2017

Hideki Muramatsu

8

1 reference

21 August 2017

Seiji Kojima

9

1 reference

21 August 2017

Yusuke Ozaki

10

1 reference

21 August 2017

Takehide Imai

11

1 reference

21 August 2017

Sachiyo Takeda

12

1 reference

21 August 2017

Tsuyoshi Ito

14

1 reference

21 August 2017

Shin'ichiro Yasunaga

15

1 reference

21 August 2017

Yoshihiro Takihara

16

1 reference

21 August 2017

Vanessa L Bryant

17

1 reference

21 August 2017

Masao Kobayashi

24

1 reference

21 August 2017

16 December 2013

1 reference

Journal of Leukocyte Biology

21 August 2017

1 reference

21 August 2017

95

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21 August 2017

4

1 reference

21 August 2017

667-676

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Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Immunity to infection in IL-17-deficient mice and humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Adjunctive interferon-γ immunotherapy for the treatment of HIV-associated cryptococcal meningitis: a randomized controlled trial

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

A partial form of recessive STAT1 deficiency in humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Cell type-specific signaling in response to interferon-gamma.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

STAT3 mutations in the hyper-IgE syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

The gamma interferon receptor is required for the protective pulmonary inflammatory response to Cryptococcus neoformans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Identification of a nuclear Stat1 protein tyrosine phosphatase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

New perspectives on the immunology of chronic mucocutaneous candidiasis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Chronic mucocutaneous candidiasis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

The IFN gamma receptor: a paradigm for cytokine receptor signaling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3958742

Interferon-gamma receptor 2 expression as the deciding factor in human T, B, and myeloid cell proliferation or death

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24343863

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detection of intracellular phosphorylated STAT-1 by flow cytometry

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24343863

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1189/JLB.0513250

1 reference

21 August 2017

1 reference

21 August 2017

1 reference