ArticleJournal of clinical immunology2017
Multiple Presentations of LRBA Deficiency: a Single-Center Experience.
Article in Journal of clinical immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 3 of them syntheses 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
35 citing papers in PubMed, 3 syntheses or guidelines pooled it, 80 citations in OpenAlex.
- Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.Frontiers in immunology · 2021Pooled it
- Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.Frontiers in immunology · 2021Pooled it
- What Works When Treating Granulomatous Disease in Genetically Undefined CVID? A Systematic Review.Frontiers in immunology · 2020Pooled it
- Immune dysregulation in pediatric cancer-associated nephrotic syndrome: current insights.Pediatric nephrology (Berlin, Germany) · 2026Review
- LRBA regulates actin cytoskeleton dynamics through NMIIA during B cell immune responses.EMBO reports · 2026Article
- Case Report: Different faces of LRBA deficiency in five Moroccan families.Frontiers in immunology · 2026Article
- LRBA deficiency impairs autophagy and contributes to enhanced antigen presentation and T-cell dysregulation.EMBO reports · 2025Article
- Case Report: Severe gastric atrophy associated with a novel homozygous variant inFrontiers in pediatrics · 2025Article
- Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning.Journal of clinical immunology · 2024Article
- Approach to diagnosing and managing granulomatous-lymphocytic interstitial lung disease.EClinicalMedicine · 2024Review
- Article
- Infections in Disorders of Immune Regulation.Pathogens (Basel, Switzerland) · 2024Review
- Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights.Frontiers in immunology · 2024Article
- Article
- Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.BMC pediatrics · 2023Review
- Beyond IBD: the genetics of other early-onset diarrhoeal disorders.Human genetics · 2023Review
- Intestinal immunoregulation: lessons from human mendelian diseases.Mucosal immunology · 2021Review
- Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.World journal of clinical cases · 2021Article
- State-of-the-art diagnostic evaluation of common variable immunodeficiency.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2021Review
- Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.Diabetes research and clinical practice · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionLPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency categorized as common variable immunodeficiency associated with autoimmune manifestations and inflammatory bowel diseases; however, the clinical spectrum has been extended. Here, we present our cohort of Turkish LRBA-deficient patients from a single center, demonstrating a diversity of clinical manifestations.
methodSeven affected individuals from five families were assessed retrospectively in this study.
resultsOf the seven patients with LRBA deficiency, four had homozygous, and two had compound heterozygous mutations. One patient remained disease free until the last follow-up (age 17 years). The most common clinical manifestations of the six symptomatic patients were organomegaly (6/6), autoimmunity (6/6), and chronic diarrhea (5/6). Recurrent infectious episodes were observed in three patients. None of the patients had hypogammaglobulinemia at presentation. B cell subpopulation analysis revealed low numbers of switched-memory B cell numbers in two of the four tested patients. During the disease course, three of the patients died, two of them underwent successful hematopoietic stem cell transplantation (HSCT) from matched sibling donors, and one is under abatacept therapy.
conclusionLRBA defects should always be kept in mind as a differential diagnosis for patients with autoimmune disease affecting multiple organs, chronic diarrhea, and organomegalies. In our experience, early HSCT is a life-saving therapeutic strategy.
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.