A case of <i>JAGN1</i> mutation presenting with atypical diabetes and immunodeficiency
This case expands the spectrum of <i>JAGN</i> <i>1</i>-related immune dysfunction and introduces a potential link between <i>JAGN1</i> deficiency and diabetes. We explore possible mechanisms underlying this association, highlighting the need for further research. Clinicians should consider <i>JAGN1</i> mutations in the differential diagnosis of combined immune and metabolic disorders.
Authors
- Willem Staels (ORCID: https://orcid.org/0000-0001-8259-3329)
- Elise Nauwynck (ORCID: https://orcid.org/0000-0001-9136-9126)
- Siel Daelemans (ORCID: https://orcid.org/0000-0002-6056-8533)
- Jesse Vanbesien (ORCID: https://orcid.org/0000-0001-8817-6139)
- Inge Gies (ORCID: https://orcid.org/0000-0002-8571-0858)
- Céline De Cuyper (ORCID: https://orcid.org/0000-0002-0410-8372)
Institutions
- Vrije Universiteit Brussel (BE)
- Universitair Ziekenhuis Brussel (BE)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-07-19
- DOI
- https://doi.org/10.1515/jpem-2025-0065
- Primary Topic
- Blood disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00