Evidence map›Paper›PMID 38329267›Full record

ReviewImmunological reviews2024

Functional genomics in inborn errors of immunity.

Charlotte Hurabielle, Taylor N LaFlam, Melissa Gearing, Chun Jimmie Ye

Open access · hybridAbstract readReview
In one paragraph

Review in Immunological reviews, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.0field-weighted citation impact, top 27% 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

5 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. 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 2 countries.

Charlotte HurabielleDivision of Rheumatology, Department of Medicine, UCSF, San Francisco, California, USA.
Taylor N LaFlamDivision of Pediatric Rheumatology, Department of Pediatrics, UCSF, San Francisco, California, USA.
Melissa GearingDivision of Rheumatology, Department of Medicine, UCSF, San Francisco, California, USA.
Chun Jimmie YeInstitute for Human Genetics, UCSF, San Francisco, California, USA.ORCID 0000-0001-6560-3783
University of California, San Francisco · USGladstone Institutes · US

Funding

Pediatric Scientist Development Program (PSDP) [K12]K12HD000850 · NICHD · YALE UNIVERSITY · PI Sallie R. Permar · 1987 to 2026
$44.1M
RESOURCE-BASED CENTER FOR THE ADVANCEMENT OF PRECISION MEDICINE IN RHEUMATOLOGYP30AR070155 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Mary C Nakamura · 2016 to 2026
$8.2M
Mapping gene-by-environment interactions using multiplexed single cell RNA-sequencingR01HG011239 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI YE, CHUN JIMMIE · 2020 to 2023
$4.1M
Genetic regulation and immunological function of ERAP2 haplotypesR01AI136972 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI YE, CHUN JIMMIE · 2018 to 2022
$3.5M
Academic Rheumatology and Clinical ImmunologyT32AR079068 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Jinoos Yazdany, JULIE ZIKHERMAN · 2021 to 2026
$2.5M
Fine mapping rheumatic disease variants using functional genomic sequencingR01AR071522 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI YE, CHUN JIMMIE · 2017 to 2020
$1.5M
Fine mapping rheumatic disease variants using functional genomic sequencingU01HG012192 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI YE, CHUN JIMMIE · 2021 to 2021
$526k
Single-cell sequencing of peripheral blood cells in SLE patientsR21AI133337 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI YE, CHUN JIMMIE · 2017 to 2018
$436k
NHGRI NIH HHS R01 HG011239NHGRI NIH HHS U01 HG012192NIAID NIH HHS L30 AI096475NIAID NIH HHS R01 AI136972NIAID NIH HHS R21 AI133337NIAMS NIH HHS P30 AR070155NIAMS NIH HHS R01 AR071522NIAMS NIH HHS T32 AR079068NICHD NIH HHS K12 HD000850NIH HHS R01AI136972NIH HHS R01HG011239
6 · The paper itself

Abstract

Inborn errors of immunity (IEI) comprise a diverse spectrum of 485 disorders as recognized by the International Union of Immunological Societies Committee on Inborn Error of Immunity in 2022. While IEI are monogenic by definition, they illuminate various pathways involved in the pathogenesis of polygenic immune dysregulation as in autoimmune or autoinflammatory syndromes, or in more common infectious diseases that may not have a significant genetic basis. Rapid improvement in genomic technologies has been the main driver of the accelerated rate of discovery of IEI and has led to the development of innovative treatment strategies. In this review, we will explore various facets of IEI, delving into the distinctions between PIDD and PIRD. We will examine how Mendelian inheritance patterns contribute to these disorders and discuss advancements in functional genomics that aid in characterizing new IEI. Additionally, we will explore how emerging genomic tools help to characterize new IEI as well as how they are paving the way for innovative treatment approaches for managing and potentially curing these complex immune conditions.

Indexed as

GenomicsHumansSyndromecoding variant functionalizationfunctional genomicsinborn errors of immunitynon-coding variant functionalization

Identifiers

PMID38329267
PMCPMC10950534
OpenAlexW4391654390

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.