ReviewThe Journal of clinical investigation2005
Variable phenotypic expression of mutations in genes of the immune system.
Review in The Journal of clinical investigation, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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
9 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- Spectrum of Phenotypes Associated with Mutations in LRBA.Journal of clinical immunology · 2016Review
- Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010-2013).Journal of clinical immunology · 2015Article
- RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.The Journal of allergy and clinical immunology · 2015Article
- Prevalence and morbidity of primary immunodeficiency diseases, United States 2001-2007.Journal of clinical immunology · 2014Article
- Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.Frontiers in immunology · 2014Article
- Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics?Journal of clinical immunology · 2011Article
- Genetics of SCID.Italian journal of pediatrics · 2010Review
- The European internet-based patient and research database for primary immunodeficiencies: results 2004-06.Clinical and experimental immunology · 2007Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Discovery of mutated genes that cause various types of primary immunodeficiencies has significantly advanced our understanding of the pathogenesis of these diseases and of the functions of normal gene products. However, it is becoming abundantly clear that the phenotypic presentation of mutations in a given gene can be quite different, depending upon the location and type of mutation but also probably upon other genetic factors and environmental influences. In this issue of the JCI, de Villartay et al. describe a third phenotype for mutations in recombination activating gene 1 (RAG1), in addition to the already known phenotypes of SCID and Omenn syndrome (see the related article beginning on page 3291).
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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.