Evidence map›Paper›PMID 40275935›Full record

ArticleThe journal of allergy and clinical immunology. Global2025

A novel

Randa S AlYafie, Mehdi Adeli, Dinesh Velayutham, Salim Bougarn, Manar Ata, Fatima Al-Ali, Evonne Chin-Smith, Bradly M Bauman, Andrew L Snow, Bertrand Boisson and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The journal of allergy and clinical immunology. Global, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

14 authors.

Randa S AlYafieCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Mehdi AdeliDepartment of Allergy and Immunology, Sidra Medicine, Doha, Qatar.
Dinesh VelayuthamCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Salim BougarnResearch Department, Sidra Medicine, Doha, Qatar.
Manar AtaResearch Department, Sidra Medicine, Doha, Qatar.
Fatima Al-AliResearch Department, Sidra Medicine, Doha, Qatar.
Evonne Chin-SmithResearch Department, Sidra Medicine, Doha, Qatar.
Bradly M BaumanDepartment of Pharmacology & Molecular Therapeutics, Uniformed Services, University of the Health Sciences, Bethesda, Md.
Andrew L SnowDepartment of Pharmacology & Molecular Therapeutics, Uniformed Services, University of the Health Sciences, Bethesda, Md.
Bertrand BoissonThe Rockefeller University, New York, NY.
Nico MarrCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Nicholas van PanhuysCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Andrea GuennounResearch Department, Sidra Medicine, Doha, Qatar.
Puthen Veettil JitheshCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.

Funding

Mechanistic elucidation of pathogenic CBM complex mutations associated with atopic diseaseR01AI168295 · NIAID · HENRY M. JACKSON FDN FOR THE ADV MIL/MED · PI Joshua D. Milner, Andrew L Snow · 2023 to 2026
$2.8M
NIAID NIH HHS R01 AI168295
6 · The paper itself

Abstract

Background: Objective: We performed genetic diagnosis of a patient of nonconsanguineous descent presenting at 11 years of age with severe atopic dermatitis, asthma, food allergy, skin and recurrent infections, and an extremely elevated level of serum IgE. Methods: We performed whole genome sequencing of samples obtained from the patient and his entire family. Results: Clinical, laboratory, genetic, and functional findings suggested CADINS. Genetic evaluation revealed a novel heterozygous missense variant (c.2913C>G, p.Cys971Trp) in the Conclusion: A novel germline heterozygous missense variant (c.2913C>G) in

Indexed as

asthmaatopic dermatitisCADINSCARD11CBM complexdominant negativeeczemafood allergiesheterozygous variantloss-of-function variant

Identifiers

PMID40275935
PMCPMC12018100

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.