A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease.

Jeremy Richard Brozyna, Rosemary Moak, Loretta Modica Parker, Thomas Prescott Atkinson

Abstract read

In one paragraph

Article in Journal of human immunity, 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

4 authors.

Jeremy Richard BrozynaDivision of Allergy and Immunology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID https://orcid.org/0000-0001-6954-6704

Rosemary MoakDivision of Allergy and Immunology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID https://orcid.org/0009-0008-3074-316X

Loretta Modica ParkerDivision of Pediatric Hematology/Oncology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID https://orcid.org/0000-0002-2869-0432

Thomas Prescott AtkinsonDivision of Allergy and Immunology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID https://orcid.org/0000-0003-2528-6976

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A child with severe leukocyte adhesion deficiency type-1 (LAD-1) was found to have compound heterozygous ITGB2 mutations. Despite moderate CD18 expression, the patient experienced life-threatening infections, demonstrating that protein levels do not always correlate with clinical severity.

Identifiers

PMID42170585

DOI10.70962/jhi.20250124

PMCPMC13177437

What OpenQuestion holds

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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.