ArticleMolecular genetics & genomic medicine2016
A potential founder variant in
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 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
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Trial
- Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency.Journal of human immunity · 2026Article
- Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series.Journal of clinical immunology · 2025Article
- Costimulatory connections: CARMIL2 and CD28.The Journal of experimental medicine · 2025Article
- TThe Journal of allergy and clinical immunology · 2024Review
- Tipping the balance in autoimmunity: are regulatory t cells the cause, the cure, or both?Molecular and cellular pediatrics · 2024Review
- Unraveling the dynamic mechanisms of natural killer cells in viral infections: insights and implications.Virology journal · 2024Review
- Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report.Endocrine, metabolic & immune disorders drug targets · 2024Article
- Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.The Journal of experimental medicine · 2023Article
- The Pathogenesis of Giant Condyloma Acuminatum (Buschke-Lowenstein Tumor): An Overview.International journal of molecular sciences · 2022Review
- Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.Allergy · 2022Article
- Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency.International archives of allergy and immunology · 2022Article
- Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy.Frontiers in pediatrics · 2022Article
- Inborn Errors of the Immune System Associated With Atopy.Frontiers in immunology · 2022Review
- Human genetic and immunological dissection of papillomavirus-driven diseases: new insights into their pathogenesis.Current opinion in virology · 2021Review
- Review
- Bronchopleural fistula in a 5- years old child with novel CARMIL 2 mutation: A rare disease and a rare case.Annals of medicine and surgery (2012) · 2021Article
- Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation.Pediatric rheumatology online journal · 2021Article
- Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.Scientific reports · 2021Article
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 3 countries.
Funding
Abstract
backgroundFour patients from three Norwegian families presented with a common skin phenotype of warts, molluscum contagiosum, and dermatitis since early childhood, and various other immunological features. Warts are a common manifestation of METHODS AND
resultsThe four patients were exome sequenced as part of a larger study for detecting genetic causes of primary immunodeficiencies. No disease-causing variants were identified in known primary immunodeficiency genes or in other disease-related OMIM genes. However, the same homozygous missense variant in
conclusionsWe report a novel primary immunodeficiency, and a differential molecular diagnosis to
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.