Evidence map›Paper›PMID 40345160›Full record

ArticleHLA2025

Deletion of the HLA-B Gene in One of the Inherited Haplotypes in a Northern European Family.

Frank Grünebach, Tobias B Haack, Michaela Döring, Britta Merz, Antje Petz, Christine Bauer, Martina Storz, Peter Lang, Reinhild Klein

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in HLA, 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

9 authors.

Frank GrünebachDepartment of Hematology, Oncology, Clinical Immunology, and Rheumatology, Internal Medicine II, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-9960-9865
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Michaela DöringDepartment of Pediatric Hematology and Oncology, University Children's Hospital, University of Tübingen, Tübingen, Germany.
Britta MerzDepartment of Hematology, Oncology, Clinical Immunology, and Rheumatology, Internal Medicine II, University of Tübingen, Tübingen, Germany.
Antje PetzDepartment of Hematology, Oncology, Clinical Immunology, and Rheumatology, Internal Medicine II, University of Tübingen, Tübingen, Germany.
Christine BauerDepartment of Hematology, Oncology, Clinical Immunology, and Rheumatology, Internal Medicine II, University of Tübingen, Tübingen, Germany.
Martina StorzDepartment of Hematology, Oncology, Clinical Immunology, and Rheumatology, Internal Medicine II, University of Tübingen, Tübingen, Germany.
Peter LangDepartment of Pediatric Hematology and Oncology, University Children's Hospital, University of Tübingen, Tübingen, Germany.
Reinhild KleinDepartment of Hematology, Oncology, Clinical Immunology, and Rheumatology, Internal Medicine II, University of Tübingen, Tübingen, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Targeted next generation sequencing-based HLA typing of a 17-year-old female transplant patient showed homozygosity for the HLA-B allele. The segregation analysis of HLA haplotypes of family members only allowed the conclusion that the B-allele was deleted in the haplotype inherited from the father and accordingly paternal grandfather, resulting in false homozygous genotyping. The subsequent whole-genome sequencing of the patient and her father confirmed an approximately 85 kb deletion at 6p21.33 from the 5' end of the HLA-B to the 3' end of the HLA-C gene extending telomeric to HLA-C.

Indexed as

HaplotypesHLA-B AntigensSequence DeletionAdolescentAllelesFemaleHigh-Throughput Nucleotide SequencingHistocompatibility TestingHomozygoteHumansMalePedigreeHLA-B Antigensgene deletionhaplotypeshistocompatibility testingHLA‐B gene

Identifiers

PMID40345160
PMCPMC12062917

What OpenQuestion holds

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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 OpenQuestion graph.