ArticleNeurology(R) neuroimmunology & neuroinflammation2020
Two neurologic facets of CTLA4-related haploinsufficiency.
Registry-linked trialOpen access · goldAbstract readCase Reports
In one paragraph
Article in Neurology(R) neuroimmunology & neuroinflammation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05040256 (Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency), which is not on this map. Cited by 14 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 33% of its field
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.
Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency
Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review.Clinical and experimental immunology · 2021Pooled it
- When to consider an inborn error of immunity: clues for physicians.Internal medicine journal · 2026Review
- Diagnostic clues in patients with clinical malabsorption and pathological small intestinal villous atrophy: Immune-mediated type and beyond.World journal of gastroenterology · 2026Review
- Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India.International journal of molecular sciences · 2025Article
- Neuroinflammation in CTLA-4 Haploinsufficiency: Case Report of a New Variant with Remarkable Response to Targeted Therapy.International journal of molecular sciences · 2025Article
- Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.Clinical reviews in allergy & immunology · 2025Article
- Review
- A novelFrontiers in immunology · 2025Article
- Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.Journal of clinical immunology · 2024Article
- 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
- Review
- A Rare Central Nervous System Involvement Due to CTLA-4 Gene Defect.Noro psikiyatri arsivi · 2022Article
- High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- "Time to recharge".Neurology(R) neuroimmunology & neuroinflammation · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 4 institutions in 1 country.
Xavier AyrignacFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France. xavier.ayrignac@yahoo.fr.
Radjiv GoulabchandFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Eric JeziorskiFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Patricia RullierFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Clarissa Carra-DallièreFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Claire LozanoFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Pierre PortalesFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Thierry VincentFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Jean François ViallardFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Nicolas Menjot de ChampfleurFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Frédéric Rieux-LaucatFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Caroline BesnardFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Michel KoenigFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Claire GuissartFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Pierre LabaugeFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Philippe GuilpainFrom the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.
Centre Hospitalier Universitaire de Montpellier · FRUniversité de Montpellier · FRInserm · FRUniversité de Bordeaux · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo describe the clinical and radiologic neurologic characteristics of patients with cytotoxic T-lymphocyte antigen-4 (
methodsThree patients from 2 families had neurologic manifestations in the context of
resultsA 16-year-old boy with a previous diagnosis of combined immunodeficiency presented with severe recurrent episodes of headaches, motor deficit, and seizures associated with waxing and waning gadolinium-enhancing FLAIR cortical/juxtacortical hyperintensities. His sister, who also had combined immunodeficiency, had a brain MRI when she was aged 13 years due to recent headaches and transient right hemianopsia. It revealed a gadolinium-enhancing left occipital white matter hyperintensity. Another 49-year-old woman had progressive visual loss and cerebellar ataxia in the context of recurrent pulmonary infections. All 3 patients were found to have inherited
conclusionsThese cases suggest that in addition to the variable clinical penetrance and wide spectrum of
Indexed as
Brain DiseasesAdolescentCTLA-4 AntigenFemaleHaploinsufficiencyHumansMaleMiddle AgedPedigreeCTLA-4 AntigenCTLA4 protein, human
Identifiers
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LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
NCT05040256ClinicalTrials.gov
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.