Evidence map›Paper›PMID 42432877›Full record

ArticlePediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology2026

Long-read sequencing reveals SVA insertion in AP3B1 causing Hermansky-Pudlak syndrome 2.

Naomi Baba, Ahmed Elashy, Oliver Wegehaupt, Barbara Zieger, Melisa Felek, Micol Ferro, Kimberly Gilmour, Ute Fischer, Arndt Borkhardt, Stephan Ehl and 2 more

Abstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and 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

12 authors.

Naomi BabaDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University, University Hospital Düsseldorf, Düsseldorf, Germany.ORCID https://orcid.org/0000-0003-3722-5353
Ahmed ElashyDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University, University Hospital Düsseldorf, Düsseldorf, Germany.ORCID https://orcid.org/0009-0005-1781-999X
Oliver WegehauptInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID https://orcid.org/0000-0002-9391-0761
Barbara ZiegerDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Melisa FelekDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University, University Hospital Düsseldorf, Düsseldorf, Germany.
Micol FerroDepartment of Immunology, Camelia Botnar Laboratories, Great Ormond Street Hospital (GOSH), London, UK.ORCID https://orcid.org/0009-0006-8548-1414
Kimberly GilmourDepartment of Immunology, Camelia Botnar Laboratories, Great Ormond Street Hospital (GOSH), London, UK.ORCID https://orcid.org/0000-0003-0285-3958
Ute FischerDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University, University Hospital Düsseldorf, Düsseldorf, Germany.ORCID https://orcid.org/0000-0002-2455-2489
Arndt BorkhardtDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University, University Hospital Düsseldorf, Düsseldorf, Germany.ORCID https://orcid.org/0000-0002-6121-4737
Stephan EhlInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID https://orcid.org/0000-0002-9265-2721
David KoppsteinDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University, University Hospital Düsseldorf, Düsseldorf, Germany.ORCID https://orcid.org/0000-0002-8618-7237
Sujal GhoshDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University, University Hospital Düsseldorf, Düsseldorf, Germany.ORCID https://orcid.org/0000-0001-5647-4262

Funding

Bundesministerium für Forschung, Technologie und Raumfahrt 01KD2410ADFG SFB1160 256073931Elterninitiative Kinderkrebsklinik e.V.
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

AP3B1Hermansky–Pudlak syndrome type 2inborn errors of immunitylong‐read sequencinglysosomal trafficking disordersretrotransposon insertion

Identifiers

PMID42432877
PMCPMC13354856

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.