A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome
- The critical need for awareness and genetic testing of the SAMHD1 deletion in Ashkenazi Jewish patients is highlighted owing to its relatively high carrier frequency. Early detection can prevent severe disease complications through targeted therapy.
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| Document Type: | Article |
|---|---|
| Language: | English |
| Author: | Oskar Schnappauf, Hongying Wang, Ivona Aksentijevich, Daniel L. Kastner, Ronald M. Laxer |
| Parent Title (English): | Journal of Allergy and Clinical Immunology: Global |
| Volume: | 4 |
| Issue: | 2 |
| Article Number: | 100400 |
| Number of pages: | 3 |
| ISSN: | 2772-8293 |
| URN: | urn:nbn:de:hbz:1044-opus-88578 |
| URL: | https://www.sciencedirect.com/science/article/pii/S2772829325000013 |
| DOI: | https://doi.org/10.1016/j.jacig.2025.100400 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/39906892 |
| Publisher: | Elsevier |
| Publishing Institution: | Hochschule Bonn-Rhein-Sieg |
| Date of first publication: | 2025/01/03 |
| Copyright: | (c) 2025 The Authors. Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology. This is an open access article under the CC BY license |
| Departments, institutes and facilities: | Fachbereich Angewandte Naturwissenschaften |
| Institut für funktionale Gen-Analytik (IFGA) | |
| Dewey Decimal Classification (DDC): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
| Open access funding: | Deutsche Forschungsgemeinschaft / DFG Förderung Open Access Publikationskosten 2023 - 2025 |
| Entry in this database: | 2025/01/28 |
| Licence (German): |  Creative Commons - CC BY - Namensnennung 4.0 International |
