Evidence map›Paper›PMID 40977680›Full record

ArticleFrontiers in immunology2025

A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency.

Brahim Belaid, Koon-Wing Chan, Lydia Lamara Mahammed, Daniel Leung, Sara Makhloufi, Fadila Bendaoud, Hassiba Sakhri, Lilya Meriem Berkani, Ines Allam, Fatma Merah and 5 more

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Article in Frontiers in immunology, 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
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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

15 authors.

Brahim BelaidDepartment of medical immunology, Beni Messous University Hospital Center, Algiers, Algeria.
Koon-Wing ChanDepartment of Pediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.
Lydia Lamara MahammedDepartment of medical immunology, Beni Messous University Hospital Center, Algiers, Algeria.
Daniel LeungDepartment of Pediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.
Sara MakhloufiDepartment of pediatrics, Batna Women's & Children's Hospital, Batna, Algeria.
Fadila BendaoudDepartment of pediatrics, Batna Women's & Children's Hospital, Batna, Algeria.
Hassiba SakhriDepartment of medical immunology, Beni Messous University Hospital Center, Algiers, Algeria.
Lilya Meriem BerkaniDepartment of medical immunology, Beni Messous University Hospital Center, Algiers, Algeria.
Ines AllamDepartment of medical immunology, Beni Messous University Hospital Center, Algiers, Algeria.
Fatma MerahDepartment of medical immunology, Beni Messous University Hospital Center, Algiers, Algeria.
Hadda BaazizFaculty of Medicine, The University of Batna, Batna, Algeria.
Bernice LoResearch Branch, Sidra Medicine, Doha, Qatar.
Jaime Sou Rosa DuqueDepartment of Pediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.
Yu Lung Lau *Department of Pediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.
Reda Djidjik *Department of medical immunology, Beni Messous University Hospital Center, Algiers, Algeria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: CD19 is an essential component of a membrane protein complex on B cells, which also includes complement receptor 2 (CD21), CD81, and CD225. It amplifies B cell receptor (BCR) signaling by recruiting regulatory molecules and facilitating the phosphorylation of key kinases. Mutations in the Purpose: we report here a novel mutation in the Methods: We conducted a comprehensive analysis of the clinical, genetic, and immunological characteristics of two siblings with CD19 deficiency. Results: Both siblings began experiencing upper and lower respiratory tract infections in early childhood. Over time, the older sibling developed recurrent fungal and viral skin infections, as well as episodes of pyelonephritis. Whole exome sequencing identified a novel homozygous mutation in the Conclusion: These findings highlight the critical role of CD19 not only in the initial activation of B lymphocytes by T-dependent antigens, but also in the maturation and/or selection of activated B cells within the memory compartment.

Indexed as

Antigens, CD19Frameshift MutationNonsense Mediated mRNA DecayAlgeriaB-LymphocytesChildFemaleHomozygoteHumansInfantMalePedigreeAntigens, CD19CD19 molecule, humanB lymphocyteCD19CD21CD81primary antibody deficiency

Identifiers

PMID40977680
PMCPMC12446367

What Socratic holds

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LicenceCC BY
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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 Socratic graph.