ArticleJournal of clinical immunology2016
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
Article in Journal of clinical immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
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Who cites it
69 citing papers in PubMed, 137 citations in OpenAlex.
- STAT1 gain-of-function in 12 Moroccan patients: Clinical and genetic insights.Journal of human immunity · 2026Article
- Disseminated Tuberculosis and Early-Onset SLE in a Child with a Novel STAT1 Gain-of-Function Mutation: a Case Report.Journal of clinical immunology · 2026Article
- Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.BMC genomics · 2025Article
- A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.Journal of clinical immunology · 2025Article
- Article
- A Norwegian cohort with STAT1-related disease - further expanding the clinical phenotype.Frontiers in immunology · 2025Article
- Chronic mucocutaneous candidiasis, mycobacterial infections and rosacea in a Mexican adult with STAT1 gain of functionBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report.Dermatology reports · 2024Article
- Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.Journal of clinical immunology · 2024Article
- Review
- STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.Internal medicine (Tokyo, Japan) · 2024Article
- Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib.Journal of clinical immunology · 2024Article
- Retrospective identification of the first cord blood-transplanted severe aplastic anemia in aFrontiers in immunology · 2024Review
- Signal Transducer and Activator of Transcription Proteins at the Nexus of Immunodeficiency, Autoimmunity and Cancer.Biomedicines · 2023Review
- Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.Journal of clinical immunology · 2023Article
- Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022.Journal of clinical immunology · 2023Article
- Neutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition.Journal of clinical immunology · 2023Article
- JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.Journal of clinical immunology · 2023Review
- Practical challenges for functional validation of STAT1 gain of function genetic variants.Clinical and experimental immunology · 2023Article
- Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.Clinical and experimental immunology · 2023Review
9 more citing papers are in PubMed but not listed here.
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Authors and funding
39 authors at 20 institutions in 10 countries.
Funding
Abstract
purposeGain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune dysregulation and immunodeficiency. The latter is often characterized by the susceptibility to recurrent Candida infections, resulting in the clinical picture of chronic mucocutaneous candidiasis (CMC). This study aims to assess the frequency of GOF STAT1 mutations in a large international cohort of CMC patients.
methodsSTAT1 was sequenced in genomic DNA from 57 CMC patients and 35 healthy family members. The functional relevance of nine different STAT1 variants was shown by flow cytometric analysis of STAT1 phosphorylation in patients' peripheral blood cells (PBMC) after stimulation with interferon (IFN)-α, IFN-γ or interleukin-27 respectively. Extended clinical data sets were collected and summarized for 26 patients.
resultsHeterozygous mutations within STAT1 were identified in 35 of 57 CMC patients (61%). Out of 39 familial cases from 11 families, 26 patients (67%) from 9 families and out of 18 sporadic cases, 9 patients (50%) were shown to have heterozygous mutations within STAT1. Thirteen distinct STAT1 mutations are reported in this paper. Eight of these mutations are known to cause CMC (p.M202V, p.A267V, p.R274W, p.R274Q, p.T385M, p.K388E, p.N397D, and p.F404Y). However, five STAT1 variants (p.F172L, p.Y287D, p.P293S, p.T385K and p.S466R) have not been reported before in CMC patients.
conclusionSTAT1 mutations are frequently observed in patients suffering from CMC. Thus, sequence analysis of STAT1 in CMC patients is advised. Measurement of IFN- or IL-induced STAT1 phosphorylation in PBMC provides a fast and reliable diagnostic tool and should be carried out in addition to genetic testing.
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