Evidence map›Paper›PMID 39415980›Full record

ArticleFrontiers in genetics2024

Analysis of rare genetic variants in

Troy von Beck, Meera Patel, Niraj C Patel, Joshy Jacob

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 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
–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

1 citing paper in PubMed.

  1. Article
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.

Troy von BeckDepartment of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC, United States.
Meera PatelDepartment of Pediatrics, Division of Allergy and Immunology, Duke University, Durham, NC, United States.
Niraj C PatelDepartment of Pediatrics, Division of Allergy and Immunology, Duke University, Durham, NC, United States.
Joshy JacobEmory Vaccine Center, Emory National Primate Research Center, Emory University, Atlanta, GA, United States.

Funding

Antigen specificity of plasma cells in Hidradenitis suppurativa skin lesionsR21AI186218 · NIAID · EMORY UNIVERSITY · PI JACOB, JOSHY · 2024 to 2025
$482k
NIAID NIH HHS R21 AI186218
6 · The paper itself

Abstract

Common variable immunodeficiency (CVID) is a group of genetic disorders involving more than a dozen genetic loci and characterized by a deficiency in specific antibody isotypes leading to poor immune responses and recurrent infection. CVID affects approximately 1 in 10,000 to 1 in 50,000 people worldwide with substantial heterogeneity in disease severity, including asymptomatic individuals designated as hypogammaglobulinemia of undetermined significance (HGUS). As expected of humoral immunodeficiency, the molecular causes of CVID primarily affect the maturation, activation, or survival of B cells and plasma cells. In this retrospective analysis, we defined a cohort of 21 patients with a primary CVID or HGUS diagnosis in the v7 release of the

Indexed as

All of Uscommon variable immunodeficiencygeneticshypogammaglobulinemia of undetermined significancepathogenicity prediction

Identifiers

PMID39415980
PMCPMC11479952

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.