Evidence map›Paper›PMID 42625796›Full record

ArticleFrontiers in immunology2026

Case Report: Compound heterozygous

Marwa Abdelbari, Zeineb Ben Lamine, Raoudha Kebaili, Hajer Ben Belgacem, Jaballah Nesrine, Najla Mekki, Imen Ben-Mustapha, Najla Soyah, Jihene Bouguila, Amel Tej and 1 more

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In one paragraph

Article in Frontiers in immunology, 2026. 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

11 authors.

Marwa AbdelbariDepartment of Pediatrics, Farhat Hached Hospital, University of Sousse, Sousse, Tunisia.
Zeineb Ben LamineFaculty of Medicine of Sousse, University of Sousse, Sousse, Tunisia.
Raoudha KebailiDepartment of Pediatrics, Farhat Hached Hospital, University of Sousse, Sousse, Tunisia.
Hajer Ben BelgacemDepartment of Pediatrics, Farhat Hached Hospital, University of Sousse, Sousse, Tunisia.
Jaballah NesrineDepartment of Pediatrics, Farhat Hached Hospital, University of Sousse, Sousse, Tunisia.
Najla MekkiLaboratory of Immunology, Institute Pasteur de Tunis and Faculty of Medicine, University Tunis El Manar, Tunis, Tunisia.
Imen Ben-MustaphaLaboratory of Immunology, Institute Pasteur de Tunis and Faculty of Medicine, University Tunis El Manar, Tunis, Tunisia.
Najla SoyahDepartment of Pediatrics, Farhat Hached Hospital, University of Sousse, Sousse, Tunisia.
Jihene BouguilaDepartment of Pediatrics, Farhat Hached Hospital, University of Sousse, Sousse, Tunisia.
Amel TejDepartment of Pediatrics, Farhat Hached Hospital, University of Sousse, Sousse, Tunisia.
Lamia BoughammouraDepartment of Pediatrics, Farhat Hached Hospital, University of Sousse, Sousse, Tunisia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Observation: We report the case of a 3-year-and-8-month-old female with a family history of LAD type I due to absent adhesion molecule expression. The patient experienced recurrent hospitalizations since the neonatal period for multiple infections, predominantly ecthyma gangrenosum and purulent otitis media. Immunological analysis revealed normal surface expression of adhesion molecules, contrasting with her severe clinical and laboratory phenotype suggestive of LAD. Genetic testing identified two variants in Conclusion: LAD type I may present in children with apparently normal expression of adhesion molecules. Functional studies are warranted to assess the impact of the c.700G>A variant, which may affect protein function despite preserved expression.

Indexed as

CD18 AntigensLeukocyte-Adhesion Deficiency SyndromeMutationChild, PreschoolFemaleGenetic Predisposition to DiseaseHeterozygoteHumansInfant, NewbornMutation, MissensePedigreePhenotypeCD18 AntigensCD18 expressionimmunodeficiencyITGB2 heterozygous mutationleukocyte adhesion deficiencypediatrics

Identifiers

PMID42625796
PMCPMC13489901

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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.