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Article

Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis.

The Journal of allergy and clinical immunology - 1 Jul 2014

Kumar Nilay, Hanks Mary E, Chandrasekaran Prabha, Davis Brian C, Hsu Amy P, Van Wagoner Nicholas J, Merlin Jessica S, Spalding Christine, La Hoz Ricardo M, Holland Steven M, Zerbe Christa S, Sampaio Elizabeth P

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Share to B-Lymphocytes
Share to STAT1 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Interferon-gamma

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Source

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Identifiers

PMID: 24709374
DOI: 10.1016/j.jaci.2014.02.037
PMCID: PMC4125455

Genes

STAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis.PMID 24709374Read ↗

Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disordersSemantic proximity Read ↗

An update on gain-of-function mutations in primary immunodeficiency diseases.Semantic proximity Read ↗

Gain-of-Function Mutations inSTAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined ImmunodeficienciesSemantic proximity Read ↗

Novel STAT1 gain-of-function mutation and suppurative infections.Semantic proximity Read ↗

[STAT1 gain-of-function mutation leading to disseminated Talaromyces marneffei infection combined with hemophagocytic syndrome: a case report].Semantic proximity Read ↗

Chronic mucocutaneous candidiasis due to gain‐of‐function mutation in STAT 1Semantic proximity Read ↗

Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype.Semantic proximity Read ↗

Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia.Semantic proximity Read ↗

Primary immunodeficiency and chronic mucocutaneous candidiasis: pathophysiological, diagnostic, and therapeutic approaches.Semantic proximity Read ↗

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.Semantic proximity Read ↗

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.Semantic proximity Read ↗

Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China.Semantic proximity Read ↗

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