ReviewThe Journal of allergy and clinical immunology2014
Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies.
Review in The Journal of allergy and clinical immunology, 2014. 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, 35 citations in OpenAlex.
- Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.Journal of clinical immunology · 2021Article
- How the Signaling Crosstalk of B Cell Receptor (BCR) and Co-Receptors Regulates Antibody Class Switch Recombination: A New Perspective of Checkpoints of BCR Signaling.Frontiers in immunology · 2021Review
- Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.Frontiers in immunology · 2018Article
- Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site.The Journal of allergy and clinical immunology · 2017Article
- Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.The Journal of allergy and clinical immunology · 2017Article
- Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.Frontiers in immunology · 2017Review
- Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).Journal of clinical immunology · 2015Article
- Systems biology of asthma and allergic diseases: a multiscale approach.The Journal of allergy and clinical immunology · 2015Review
- Utility of next generation sequencing in clinical primary immunodeficiencies.Current allergy and asthma reports · 2014Article
- The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.The Journal of allergy and clinical immunology · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
There are more than 180 different genetic causes of primary immunodeficiencies identified to date. Approaches for identifying causative mutations can be broadly classified into 3 strategies: (1) educated guesses based on known signaling pathways essential for immune cell development and function, (2) similarity of clinical phenotypes to mouse models, and (3) unbiased genetic approaches. Next-generation DNA sequencing permits efficient sequencing of whole genomes or exomes but also requires strategies for filtering vast amounts of data. Recent studies have identified ways to solve difficult cases, such as diseases with autosomal dominant inheritance, incomplete penetrance, or mutations in noncoding regions. This review focuses on recently identified primary immunodeficiencies to illustrate the strategies, technologies, and potential pitfalls in finding novel causes of these diseases.
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.