ArticleFrontiers in immunology2020
A Novel Pathogenic Variant in
Article in Frontiers in immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency.Journal of human immunity · 2026Article
- Epstein-Barr virus-associated smooth muscle tumor of the lung in a child: a case report and literature review.Frontiers in medicine · 2026Article
- Celiac Disease as A Gastrointestinal Manifestation in A Patient withEuropean journal of case reports in internal medicine · 2026Article
- Epstein-Barr Virus-Associated Smooth Muscle Tumors in inborn Errors of Immunity: A single-center Case Series and Literature Overview.Journal of clinical immunology · 2025Review
- Genomic profiling at a single center cracks the code in inborn errors of immunity.Internal and emergency medicine · 2025Article
- Tipping the balance in autoimmunity: are regulatory t cells the cause, the cure, or both?Molecular and cellular pediatrics · 2024Review
- A NovelJournal of fungi (Basel, Switzerland) · 2024Article
- A Clinicopathology Review and Update of Epstein-Barr Virus-Associated Mesenchymal Tumors.Cancers · 2023Review
- TCR Pathway Mutations in Mature T Cell Lymphomas.Journal of immunology (Baltimore, Md. : 1950) · 2023Review
- Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.The Journal of experimental medicine · 2023Article
- Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.Allergy · 2022Article
- Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy.Frontiers in pediatrics · 2022Article
- Epstein-Barr Virus-Associated Smooth Muscle Tumor and Its Correlation With CD4 Levels in a Patient With HIV Infection.Frontiers in cellular and infection microbiology · 2022Article
- Inborn Errors of the Immune System Associated With Atopy.Frontiers in immunology · 2022Review
- Deciphering the role of DOCK8 in tumorigenesis by regulating immunity and the application of nanotechnology in DOCK8 deficiency therapy.Frontiers in pharmacology · 2022Review
- Mycobacterial diseases in patients with inborn errors of immunity.Current opinion in immunology · 2021Review
- Review
- Immune Microenvironment Signatures as Biomarkers to Predict Early Recurrence of Stage Ia-b Lung Cancer.Frontiers in oncology · 2021Article
- Higher Incidence of B Cell Malignancies in Primary Immunodeficiencies: A Combination of Intrinsic Genomic Instability and Exocytosis Defects at the Immunological Synapse.Frontiers in immunology · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CARMIL2 deficiency is a rare combined immunodeficiency (CID) characterized by defective CD28-mediated T cell co-stimulation, altered cytoskeletal dynamics, and susceptibility to Epstein Barr Virus smooth muscle tumors (EBV-SMTs). Case reports associated with EBV-SMTs are limited. We describe herein a novel homozygous
Indexed as
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.