Evidence map›Paper›PMID 39835139›Full record

ArticleFrontiers in immunology2024

The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.

Sara Posadas-Cantera, Noriko Mitsuiki, Florian Emmerich, Virginia Patiño, Hanns-Martin Lorenz, Olaf Neth, Ingunn Dybedal, Kjetil Taskén, Alejandro A Schäffer, Bodo Grimbacher and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Novel pathogenicFrontiers in immunology · 2026
    Article
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Sara Posadas-CanteraInstitute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Noriko MitsuikiInstitute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Florian EmmerichInstitute for Transfusion Medicine and Gene Therapy, Freiburg University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Virginia PatiñoImmunology Team, American Insurance, Montevideo, Uruguay.
Hanns-Martin LorenzDivision of Rheumatology, Department of Internal Medicine V, University of Heidelberg, Heidelberg, Germany.
Olaf NethPaediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/Universidad de Sevilla/CSIC, Seville, Spain.
Ingunn DybedalDepartment of Hematology and Pharmacology, Oslo University Hospital, Oslo, Norway.
Kjetil TaskénDepartment of Cancer Immunology, Institute for Cancer Research, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Alejandro A SchäfferCancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States.
Bodo GrimbacherInstitute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Laura Gámez-DíazInstitute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Human Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) insufficiency caused by heterozygous germline mutations in Methods: In this exploratory study, we investigated the association of disease onset, severity and clinical manifestations of CTLA-4 insufficiency with specific HLA class I (A, B and C) and class II (DRB1 and DQB1) alleles in forty-three individuals harboring heterozygous mutations in Results: The principal statistical analyses showed no positive association between the HLA genotypes analyzed with the disease onset or the disease severity. We found potential risk associations of Discussion: Even though, our findings suggest that HLA-A, -B, -C, DRB1, and DQB1 do not contribute to the onset or severity of disease in CTLA-4 insufficiency, certain HLA-alleles may influence the manifestation of specific symptoms. We advocate for further investigation of specific class I and class II HLA alleles as potential disease modifiers in larger clinical cohorts of CTLA-4 insufficiency.

Indexed as

CTLA-4 AntigenGenotypeHLA AntigensAdolescentAdultAllelesChildChild, PreschoolFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseHaplotypesHumansMaleMiddle AgedCTLA-4 AntigenCTLA4 protein, humanHLA Antigenscytotoxic T-lymphocyte antigen 4 (CTLA-4)disease modifiersgenetic linkage analysishuman leukocyte antigen (HLA)immune dysregulationinborn errors of immunity (IEI)

Identifiers

PMID39835139
PMCPMC11744039

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.