Evidence map›Paper›PMID 42812140›Full record

ArticlePediatric diabetes2026

Severe onset type 1 diabetes mellitus with unusual manifestations due to CD70 deficiency: novel pathway in deciphering the etiopathogenesis of type 1 diabetes mellitus, and the experience with hematopoietic stem cell transplantation.

Yagmur Unsal, Ertugrul Sancak, N Berna Çelik Ertaş, David B Langley, Hacer Neslihan Bildik, Aysegül Akarsu, Sevil Oskay Halacli, Dogus Vuralli Karaoglan, Saliha Esenboga, Diclehan Orhan and 5 more

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In one paragraph

Article in Pediatric diabetes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

15 authors.

Yagmur Unsal *Department of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.ORCID 0000-0002-9113-8683
Ertugrul Sancak *Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
N Berna Çelik ErtaşDepartment of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
David B LangleyImmune Biotherapies Program, Garvan Institute of Medical Research, Sydney, Australia.
Hacer Neslihan BildikInstitute of Child Health, Immunology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
Aysegül AkarsuDepartment of Pediatrics, Division of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
Sevil Oskay HalacliInstitute of Child Health, Immunology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
Dogus Vuralli KaraoglanDepartment of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
Saliha EsenbogaDepartment of Pediatrics, Division of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
Diclehan OrhanDepartment of Pediatrics, Division of Pediatric Pathology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
Baris KuskonmazDepartment of Pediatrics, Division of Pediatric Hematology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
F Visal OkurDepartment of Pediatrics, Division of Pediatric Hematology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
E Nazlı GönçDepartment of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
Deniz CagdasInstitute of Child Health, Immunology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.
Zeynep Alev OzonDepartment of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

CD70 deficiency, mostly recognized by immune dysregulation, hemophagocytic lymphohistiocytosis, lymphoproliferation, and malignancy, was recently associated with severe and accelerated diabetes in mice. Such a causal relationship is not previously reported in humans. The aim of this study is to describe the first case of CD70 deficiency manifesting with severe onset type 1 diabetes mellitus (T1DM). Changes to glycemic control following hematopoietic stem cell transplantation and accompanying autoimmunity are defined. Immunophenotype analysis, next-generation-primary immunodeficiency panel analysis, and Sanger sequencing were conducted. Then, segregation analysis and functional studies were carried out for validation of the homozygous missense variant in

Indexed as

CD27 LigandDiabetes Mellitus, Type 1Hematopoietic Stem Cell TransplantationHumansMutation, MissenseCD27 LigandCD70 protein, humanAutoimmuneCD70 deficiencyHematopoietic stem cell transplantationInborn errors of immunityType 1 diabetes mellitus

Identifiers

PMID42812140
PMCPMC13463379

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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.