Evidence map›Paper›PMID 37813732›Full record

ReviewTrends in immunology2023

Interplay between epigenetic and genetic alterations in inborn errors of immunity.

Javier Rodríguez-Ubreva, Celia L Calvillo, Lisa R Forbes Satter, Esteban Ballestar

Open access · greenAbstract readReview
In one paragraph

Review in Trends in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.6field-weighted citation impact, top 15% of its field
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

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2024
    Review
  6. 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

4 authors at 2 institutions in 3 countries.

Javier Rodríguez-UbrevaEpigenetics and Immune Disease Group, Josep Carreras Leukemia Research Institute (IJC), 08916 Badalona, Barcelona, Spain.
Celia L CalvilloEpigenetics and Immune Disease Group, Josep Carreras Leukemia Research Institute (IJC), 08916 Badalona, Barcelona, Spain.
Lisa R Forbes SatterDepartment of Pediatrics, Division of Immunology, Allergy, and Retrovirology, Baylor College of Medicine, Houston, TX, USA; William T. Shearer Texas Children's Hospital Center for Human Immunobiology, Houston, TX, USA.
Esteban BallestarEpigenetics and Immune Disease Group, Josep Carreras Leukemia Research Institute (IJC), 08916 Badalona, Barcelona, Spain; Epigenetics in Inflammatory and Metabolic Diseases Laboratory, Health Science Center (HSC), East China Normal University (ECNU), Shanghai, China. Electronic address: eballestar@carrerasresearch.org.
Josep Carreras Leukaemia Research Institute · ESBaylor College of Medicine · US

Funding

Safety and Efficacy of Itacitinib in treatment of JAK/STAT pathway disorders with activating mutationsUG3TR003908 · NCATS · BAYLOR COLLEGE OF MEDICINE · PI FORBES, LISA, TORGERSON, TROY R · 2021 to 2022
$1.2M
NCATS NIH HHS UG3 TR003908
6 · The paper itself

Abstract

Inborn errors of immunity (IEIs) comprise a variety of immune conditions leading to infections, autoimmunity, allergy, and cancer. Some IEIs have no identified mutation(s), while others with identical mutations can display heterogeneous presentations. These observations suggest the involvement of epigenetic mechanisms. Epigenetic alterations can arise from downstream activation of cellular pathways through both extracellular stimulation and genetic-associated changes, impacting epigenetic enzymes or their interactors. Therefore, we posit that epigenetic alterations and genetic defects do not exclude each other as a disease-causing etiology. In this opinion, encompassing both basic and clinical viewpoints, we focus on selected IEIs with mutations in transcription factors that interact with epigenetic enzymes. The intricate interplay between these factors offers insights into genetic and epigenetic mechanisms in IEIs.

Indexed as

AutoimmunityHypersensitivityEpigenesis, GeneticEpigenomicsHumansMutationepigeneticsinborn errors of immunityprimary immunodeficienciestranscription factors

Identifiers

PMID37813732
PMCPMC10615875
OpenAlexW4387425220

What OpenQuestion holds

Textmetadata
LicenceTDM
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.