ArticlePediatric rheumatology online journal2019
RAS-associated Autoimmune Leukoproliferative disease (RALD) manifested with early-onset SLE-like syndrome: a case series of RALD in Chinese children.
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 19 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
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Red flags to suspect inborn errors of immunity in patients with autoimmune diseasesBiomedica : revista del Instituto Nacional de Salud · 2024Pooled it
- Ras-associated autoimmune leukoproliferative disorder associated with immune thrombotic thrombocytopenic purpura.Research and practice in thrombosis and haemostasis · 2026Article
- Recurrent and unusual infections unmasking a rare inborn error of immunity: a case report RAS-associated Autoimmune Lymphoproliferative Disease (RALD).BMC pediatrics · 2026Article
- Hematopoietic Stem Cell Transplantation Achieves Sustained Remission in Pediatric RAS-Associated Autoimmune Lymphoproliferative Disorder with Life-Threatening Complications: a Single-Center Case Series and Literature Review.Journal of clinical immunology · 2026Article
- Characterization of intestinal immune responses in generalized human and murine lipodystrophy.The Journal of clinical investigation · 2026Article
- Case Report: RAS-associated autoimmune leukoproliferative disorder presenting with early-onset liver failure in a 9-month-old Chinese girl.Frontiers in pediatrics · 2026Article
- Early-onset systemic lupus erythematosus in a patient with an inborn error of immunity caused by a NRAS mutation and treated with telitacicept.Molecular and cellular pediatrics · 2025Article
- Somatic mutations in autoinflammatory and autoimmune disease.Nature reviews. Rheumatology · 2024Review
- LASSO-derived nomogram for early identification of pediatric monogenic lupus.World journal of pediatrics : WJP · 2024Article
- Mechanism and target treatment of primary immunodeficiency diseases with systemic lupus erythematosus-like phenotype.Pediatric discovery · 2024Review
- Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.Journal of clinical immunology · 2024Article
- The 330 risk loci known for systemic lupus erythematosus (SLE): a review.Frontiers in lupus · 2024Article
- Beyond Infections: New Warning Signs for Inborn Errors of Immunity in Children.Frontiers in pediatrics · 2022Review
- Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2021Article
- RASopathies: From germline mutations to somatic and multigenic diseases.Biomedical journal · 2021Review
- Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).Journal of clinical immunology · 2021Article
- Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies.Frontiers in pediatrics · 2021Article
- Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.Journal of clinical immunology · 2020Article
- [Progress in diagnosis and treatment ofZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
backgroundPrimary immunodeficiency diseases (PIDs) patients may show systemic lupus erythematosus (SLE)-like autoimmunity disorders, such as cytopenias, as well as polyarthritis, which leads to concerns of misdiagnosis. We diagnosed three RALD cases between 2015 and 2018, who were suspected as SLE and summarized clinical characteristics.
methodsWe collected and analyzed the clinical data of the 3 cases. DNA was extracted from the patients' and their parents' peripheral blood as well as oral mucosa cells, hair follicles, and nails. Genes were detected with the application of gene trapping high-throughput sequencing using PIDs panel and suspicious gene or mutation was further verified by Sanger sequencing.
results1. CLINICAL FEATURES: On the one hand, the patients presented with severe thrombocytopenia, facial erythema, arthritis, positive autoantibodies and other manifestations, supporting the diagnosis of SLE. On the other hand, symptoms including early onset ages, recurrent infections, lymphadenopathy, hepatosplenomegaly, monocytosis and hypergammaglobulinemia, were common observed in PIDs. 2. Gene analysis: NRAS mutations (c.38G > A, p.G13D or c.37G > T, p.G13C) were found in the blood of the patients. Besides, the same set of mutations was detected in buccal mucosa of patient 1 and nails of patient 3 while the frequency was much lower. However, no mutation was found in other tissues or in their parents' blood. Consequently, they were NRAS somatic mutated RALD.
conclusionsFor those early-onset SLE-like patients with predominant hematologic disorders, monocytosis, recurrent infectious history, accompanied with hepatosplenomegaly and lymphadenopathy, a genetic screening of PIDs might be required.
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.