ArticlePediatric rheumatology online journal2019
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.
Article in Pediatric rheumatology online journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 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
37 citing papers in PubMed, 60 citations in OpenAlex.
- Anifrolumab efficacy and safety by type I interferon gene signature and clinical subgroups in patients with SLE: post hoc analysis of pooled data from two phase III trials.Annals of the rheumatic diseases · 2022Trial
- Advancements in Diagnosis and Care for Immune Dysregulation and Inborn Errors of Immunity in Pediatric Rheumatology: Our 50-Year Journey.Arthritis care & research · 2026Review
- From metabolic disorder to autoimmunity: lupus-like immune dysregulation in children with SLC7A7-associated lysinuric protein intolerance.BMC pediatrics · 2026Review
- Genetic determinants of childhood onset systemic lupus erythematosus.Lupus science & medicine · 2026Article
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort.Lupus science & medicine · 2026Article
- Single-centre comparison of non-familial, familial and monogenic lupus.Rheumatology (Oxford, England) · 2025Article
- The Role of Solute Carriers in the Metabolic Reprogramming of Skin Diseases.Clinical reviews in allergy & immunology · 2025Review
- CAR T cell therapy for children with rheumatic disease: the time is now.Nature reviews. Rheumatology · 2025Review
- Next generation sequencing analysis reveals complex genetic architecture of childhood-onset systemic lupus erythematosus.Lupus science & medicine · 2025Article
- Two siblings with monogenic lupus due to C1qC deficiency and case based review.Clinical rheumatology · 2025Review
- Efferocytosis in Homeostasis.Advances in experimental medicine and biology · 2025Review
- Towards precision medicine for systemic lupus erythematosus and neuropsychiatric manifestations.Expert review of precision medicine and drug development · 2025Article
- MAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis.Expert reviews in molecular medicine · 2024Review
- LASSO-derived nomogram for early identification of pediatric monogenic lupus.World journal of pediatrics : WJP · 2024Article
- Severe lupus nephritis in a young adult with PTEN hamartoma tumour syndrome.BMJ case reports · 2024Article
- Revisiting Childhood-Onset Systemic Lupus Erythematosus.Turkish archives of pediatrics · 2024Article
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.Frontiers in genetics · 2024Review
- Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus.Genes and immunity · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundSystemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to phenotypic and genetic heterogeneity.
methodsWe employed whole exome sequencing (WES) in patients presenting with childhood-onset lupus with severe and/or atypical presentations to identify cases that are explained by a single-gene (monogenic) cause.
resultsFrom January 2015 to June 2018 15 new cases of childhood-onset SLE were diagnosed in Edmond and Lily Safra Children's Hospital. By WES we identified causative mutations in four subjects in five different genes: C1QC, SLC7A7, MAN2B1, PTEN and STAT1. No molecular diagnoses were established on clinical grounds prior to genetic testing.
conclusionsWe identified a significant fraction of monogenic SLE etiologies using WES and confirm the genetic locus heterogeneity in childhood-onset lupus. These results highlight the importance of establishing a genetic diagnosis for children with severe or atypical lupus by providing accurate and early etiology-based diagnoses and improving subsequent clinical management.
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.