ArticleBlood2017
Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.
Article in Blood, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 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
65 citing papers in PubMed, 1 synthesis or guideline pooled it, 100 citations in OpenAlex.
- Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review.Clinical and experimental immunology · 2021Pooled it
- Article
- Cytotoxic T-Lymphocyte-Associated Protein 4 (CTLA-4): Between immune tolerance and genetic predisposition to Systemic Lupus Erythematosus (SLE).Journal of translational autoimmunity · 2026Review
- Novel pathogenicFrontiers in immunology · 2026Article
- Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India.International journal of molecular sciences · 2025Article
- Inborn errors of regulatory T-cell differentiation and function.The Journal of allergy and clinical immunology · 2025Review
- A review of immune checkpoint inhibitor-associated myocarditis: Epidemiology, pathogenesis, and biomarkers.Human vaccines & immunotherapeutics · 2025Review
- A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency.Journal of clinical immunology · 2025Article
- pH-dependent dissociation from CTLA-4 in early endosomes improves both safety and antitumor activity of anti-CTLA-4 antibodies.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Management of Autoimmune Encephalitis in a 7-Year-Old Child With CTLA-4 Haploinsufficiency and AMPA Receptor Antibodies: A Case Report.Neurology(R) neuroimmunology & neuroinflammation · 2024Article
- The significance of targeting lysosomes in cancer immunotherapy.Frontiers in immunology · 2024Review
- Single cell analyses reveal the PD-1 blockade response-related immune features in hepatocellular carcinoma.Theranostics · 2024Article
- Differential Diagnosis: Hepatic Complications in Inborn Errors of Immunity.Journal of clinical medicine · 2023Review
- Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry.Journal of clinical immunology · 2023Article
- Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation.Molecular and cellular pediatrics · 2023Review
- Beyond IBD: the genetics of other early-onset diarrhoeal disorders.Human genetics · 2023Review
- The CTLA-4 immune checkpoint protein regulates PD-L1:PD-1 interaction via transendocytosis of its ligand CD80.The EMBO journal · 2023Article
- Treg in inborn errors of immunity: gaps, knowns and future perspectives.Frontiers in immunology · 2023Review
- CTLA-4 and its inhibitors in esophageal cancer: efficacy of therapy and potential mechanisms of adverse events.American journal of cancer research · 2023Review
- The ABACHAI clinical trial protocol: Safety and efficacy of abatacept (s.c.) in patients with CTLA-4 insufficiency or LRBA deficiency: A non controlled phase 2 clinical trial.Contemporary clinical trials communications · 2022Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 6 institutions in 2 countries.
Funding
Abstract
Heterozygous CTLA-4 deficiency has been reported as a monogenic cause of common variable immune deficiency with features of immune dysregulation. Direct mutation in CTLA-4 leads to defective regulatory T-cell (Treg) function associated with impaired ability to control levels of the CTLA-4 ligands, CD80 and CD86. However, additional mutations affecting the CTLA-4 pathway, such as those recently reported for LRBA, indirectly affect CTLA-4 expression, resulting in clinically similar disorders. Robust phenotyping approaches sensitive to defects in the CTLA-4 pathway are therefore required to inform understanding of such immune dysregulation syndromes. Here, we describe assays capable of distinguishing a variety of defects in the CTLA-4 pathway. Assessing total CTLA-4 expression levels was found to be optimal when restricting analysis to the CD45RA
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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.