ArticleFrontiers in immunology2018
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Article in Frontiers in immunology, 2018. 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, 35 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.Immunologic research · 2024Article
- Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.Molecular genetics & genomic medicine · 2024Article
- Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights.Frontiers in immunology · 2024Article
- Lipopolysaccharide-responsive beige-like anchor is involved in regulating NF-κB activation in B cells.Frontiers in immunology · 2024Article
- Article
- Beyond IBD: the genetics of other early-onset diarrhoeal disorders.Human genetics · 2023Review
- Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.International journal of environmental research and public health · 2022Article
- Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.NPJ genomic medicine · 2021Article
- Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.World journal of clinical cases · 2021Article
- Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.Diabetes research and clinical practice · 2021Article
- Case Report: A Case of Epileptic Disorder Associated With a NovelFrontiers in genetics · 2021Article
- Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in theFrontiers in immunology · 2021Article
- E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.Journal of clinical immunology · 2020Article
- Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.Frontiers in immunology · 2020Article
- Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls.Frontiers in pediatrics · 2020Article
- Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.Molecular genetics & genomic medicine · 2019Article
- Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.Frontiers in immunology · 2019Article
- Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation.Frontiers in immunology · 2019Review
- Various phenotypes ofInternational journal of immunopathology and pharmacologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the
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.