ArticleFrontiers in immunology2022
Hemizygous nonsense variant in the moesin gene
Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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
10 citing papers in PubMed, 16 citations in OpenAlex.
- A Novel MSN Mutation Impairs CD4Journal of clinical immunology · 2026Article
- Immune-related actinopathies at the cross-road of immunodeficiency, autoimmunity and autoinflammation.Nature reviews. Immunology · 2026Review
- The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection.Journal of clinical immunology · 2025Article
- Activation of the Mammalian Target of Rapamycin Pathway in Endothelial Cells in Antiphospholipid Antibody-Positive Patients with Leg Ulcers.International journal of molecular sciences · 2025Article
- Simultaneous Effects of Single-Nucleotide Polymorphisms on the Estimated Breeding Value of Milk, Fat, and Protein Yield of Holstein Friesian Cows in Hungary.Animals : an open access journal from MDPI · 2024Article
- Management of Patients Receiving Anticoagulation Therapy in Dental Practice: A Systematic Review.Healthcare (Basel, Switzerland) · 2024Review
- TRPA1 Covalent Ligand JT010 Modifies T Lymphocyte Activation.Biomolecules · 2024Article
- Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic Neutropenia.Case reports in immunology · 2024Article
- Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic.Frontiers in immunology · 2023Article
- Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?Clinical medicine insights. Pediatrics · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Here, we present the findings of an investigation involving two male siblings with juvenile total tooth loss, early-onset chronic leg ulcers, and autoimmune thyroiditis, as well as focal segmental glomerulosclerosis with associated pulmonary emphysema in one and diabetes mellitus in the other. The clinical picture and lupus anticoagulant, cryoglobulin, and cold agglutinin positivity suggested the diagnosis of antiphospholipid syndrome. Flow cytometry analysis showed immunophenotypes consistent with immune dysregulation: a low number of naive T cells, elevated CD4
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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.