A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation (Q44235726)

1 December 2017

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

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Jean-Laurent Casanova

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Juan Carlos Aldave

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Sophie Cypowyj

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object named as

Sophie Cypowyj

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1 December 2017

Enrique Cachay

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1 December 2017

Luis Núñez

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1 December 2017

Ausberto Chunga

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Sergio Murillo

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Armando Koo

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9 October 2013

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Journal of Clinical Immunology

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33

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8

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1273-1275

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https://scigraph.springernature.com/pub.10.1007/s10875-013-9947-5

1 December 2017

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cites work

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

21 January 2018

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Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects

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

21 January 2018

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STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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12 December 2020

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

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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

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12 December 2020

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

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12 December 2020

Successful allogeneic bone marrow transplantation in severe chronic mucocutaneous candidiasis syndrome

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12 December 2020

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

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12 December 2020

10.1007/S10875-013-9947-5

Identifiers

DOI

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1 December 2017

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