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Heterozygous gain-of-function mutations in human STAT1: A case of hemophagocytic lymphohistiocytosis due to chronic mucocutaneous candidiasis in a 17-month-old male.

Pediatric blood & cancer - 1 Jun 2023

Ruan Peisen, Zhang Yizhi, Chen Haier, Chen Hehe, Dong Zhuoya

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Share to Candidiasis, Chronic Mucocutaneous
Share to Gain of Function Mutation
Share to Infant
Share to Lymphohistiocytosis, Hemophagocytic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36881481
DOI: 10.1002/pbc.30284

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Heterozygous gain-of-function mutations in human STAT1: A case of hemophagocytic lymphohistiocytosis due to chronic mucocutaneous candidiasis in a 17-month-old male.PMID 36881481Read ↗

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.Semantic proximity Read ↗

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

Chronic mucocutaneous candidiasis due to STAT1 gene mutation.Semantic proximity Read ↗

Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory researchSemantic proximity Read ↗

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

Gain-of-function STAT1 mutation and visceral leishmaniasis.Semantic proximity Read ↗

A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosisSemantic proximity Read ↗

A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis–Like HyperinflammationSemantic proximity Read ↗

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.Semantic proximity Read ↗

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

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

Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation.Semantic proximity Read ↗

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