Evidence map›Paper›PMID 37503744›Full record

ArticleClinical and experimental immunology2024

Clinical and cellular phenotypes resulting from a founder mutation in IL10RB.

Zhiming Mao, Michael J Betti, Miguel A Cedeno, Luis A Pedroza, Shamel Basaria, Qi Liu, Joseph M Choi, Janet G Markle

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical and experimental immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 40% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

8 authors at 3 institutions in 1 country.

Zhiming MaoDepartment of Molecular Microbiology and Immunology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.ORCID 0000-0002-7705-9575
Michael J BettiDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Miguel A CedenoDepartment of Pediatrics, Hospital de ninos Roberto Gilbert Elizalde, Guayaquil, Ecuador.
Luis A PedrozaDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.
Shamel BasariaDivision of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Qi LiuDivision of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Joseph M ChoiDivision of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Janet G MarkleDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-2189-4368
Vanderbilt University Medical Center · USColumbia University · USJohns Hopkins University · US

Funding

Translational Analysis CoreP30DK058404 · NIDDK · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RICHARD M. PEEK · 2002 to 2026
$29.9M
Translational Research Enhancement CoreP30DK089502 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI ZACHOS, NICHOLAS CONSTANTINE · 2011 to 2020
$12.0M
From genetic variants to mechanisms: understanding drivers of inflammationR35GM155339 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Janet G Markle · 2024 to 2026
$1.3M
NIDDK NIH HHS P30 DK058404NIDDK NIH HHS P30 DK089502NIGMS NIH HHS R35 GM155339
6 · The paper itself

Abstract

Inborn errors of immunity are a group of rare genetically determined diseases that impair immune system development or function. Many of these diseases include immune dysregulation, autoimmunity, or autoinflammation as prominent clinical features. In some children diagnosed with very early onset inflammatory bowel disease (VEOIBD), monogenic inborn errors of immune dysregulation underlie disease. We report a case of VEOIBD caused by a novel homozygous loss of function mutation in IL10RB. We use cytometry by time-of-flight with a broad panel of antibodies to interrogate the immunophenotype of this patient and detect reduced frequencies of CD4 and CD8 T cells with additional defects in some populations of T helper cells, innate-like T cells, and memory B cells. Finally, we identify the patient's mutation as a founder allele in an isolated indigenous population and estimate the age of this variant by studying the shared ancestral haplotype.

Indexed as

Founder EffectInflammatory Bowel DiseasesPhenotypeB-LymphocytesCD4-Positive T-LymphocytesCD8-Positive T-LymphocytesFemaleHaplotypesHumansImmunophenotypingInfantInterleukin-10 Receptor beta SubunitLoss of Function MutationMaleMutationIL10RB protein, humanInterleukin-10 Receptor beta Subunitfounder mutationIL-10inflammatory bowel disease

Identifiers

PMID37503744
PMCPMC11036105
OpenAlexW4385330530

What OpenQuestion holds

Textmetadata
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.