(Q44235726)

1 December 2017

title

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

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1 December 2017

7

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1 December 2017

8

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Jean-Laurent Casanova

9

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1 December 2017

Juan Carlos Aldave

1

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Sophie Cypowyj

6

object named as

Sophie Cypowyj

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1 December 2017

Enrique Cachay

2

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1 December 2017

Luis Núñez

3

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1 December 2017

Ausberto Chunga

4

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Sergio Murillo

5

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1 December 2017

Armando Koo

10

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1 December 2017

publication date

9 October 2013

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Journal of Clinical Immunology

1 December 2017

published in

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1 December 2017

volume

33

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1 December 2017

issue

8

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1 December 2017

page(s)

1273-1275

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Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

1 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9947-5

Severe aplastic anemia associated with chronic mucocutaneous candidiasis. Immunologic and hematologic reconstitution after allogeneic bone marrow transplantation

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Successful allogeneic bone marrow transplantation in severe chronic mucocutaneous candidiasis syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10875-013-9947-5

Identifiers

DOI

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1 December 2017

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