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Article

Gain-of-function STAT1 mutation and visceral leishmaniasis.

Einstein (Sao Paulo, Brazil) - 1 Jan 2022

Lyra Paula Teixeira, Falcão Ana Carla Augusto Moura, Cruz Rafael Amora, Coelho Antonio Victor Campos, Souza Edvaldo da Silva, Alencar Luiz Claudio Arraes de, Oliveira João Bosco

Abstract excerpt

Gain-of-function mutations in the STAT1 gene have been initially associated with chronic mucocutaneous candidiasis. However, further research has shown that STAT1 GOF variants may increase susceptibility to infection by other intracellular pathogens. This report describes the first case of disseminated leishmaniasis associated with a STAT1 GOF mutation in a pediatric patient who did not have chronic mucocutaneous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36102410
DOI: 10.31744/einstein_journal/2022RC0048
PMCID: PMC9444186

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Gain-of-function STAT1 mutation and visceral leishmaniasis.PMID 36102410Read ↗

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A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.Semantic proximity Read ↗

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