ArticleCase reports in immunology2017
Gain-of-Function Mutations in
Article in Case reports in immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.Frontiers in immunology · 2022Pooled it
- JAK-inhibitor treatment induces rapid yet incomplete immune reconstitution in STAT1 gain-of-function.Journal of human immunity · 2026Article
- Second-order regulation: IFN-γ suppresses IL-17A-mediated type 3 inflammation.Frontiers in immunology · 2026Article
- Decoding Immunobiology Through Genetic Errors of Immunity.Annual review of immunology · 2025Review
- Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report.Dermatology reports · 2024Article
- PIM kinases regulate early human Th17 cell differentiation.Cell reports · 2023Article
- Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant.Frontiers in immunology · 2022Article
- Gain-of-function STAT1 mutation and visceral leishmaniasis.Einstein (Sao Paulo, Brazil) · 2022Article
- Leveraging Systems Immunology to Optimize Diagnosis and Treatment of Inborn Errors of Immunity.Frontiers in systems biology · 2022Article
- Review
- STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses.NPJ genomic medicine · 2021Article
- Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.Journal of clinical immunology · 2021Article
- Transcriptional Profiling and Machine Learning Unveil a Concordant Biosignature of Type I Interferon-Inducible Host Response Across Nasal Swab and Pulmonary Tissue for COVID-19 Diagnosis.Frontiers in immunology · 2021Article
- Lung involvement in monogenic interferonopathies.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- A Review of Autoimmune Enteropathy and Its Associated Syndromes.Digestive diseases and sciences · 2020Review
- Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.Journal of clinical immunology · 2020Review
- Noncanonical STAT3 activity sustains pathogenic Th17 proliferation and cytokine response to antigen.The Journal of experimental medicine · 2020Article
- Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (BMJ case reports · 2020Article
- Advances in Understanding Human Genetic Variations That Influence Innate Immunity to Fungi.Frontiers in cellular and infection microbiology · 2020Review
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.