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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| Format: | Article |
| Language: | English |
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Elsevier
2025-05-01
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| Series: | Journal of Allergy and Clinical Immunology: Global |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772829325000013 |
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| author | Oskar Schnappauf, PhD Hongying Wang, PhD Ivona Aksentijevich, MD Daniel L. Kastner, MD, PhD Ronald M. Laxer, MD |
| author_facet | Oskar Schnappauf, PhD Hongying Wang, PhD Ivona Aksentijevich, MD Daniel L. Kastner, MD, PhD Ronald M. Laxer, MD |
| author_sort | Oskar Schnappauf, PhD |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9c4f8dcc6e2947fc9a64fd3e140b61af |
| institution | OA Journals |
| issn | 2772-8293 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Allergy and Clinical Immunology: Global |
| spelling | doaj-art-9c4f8dcc6e2947fc9a64fd3e140b61af2025-08-20T02:28:38ZengElsevierJournal of Allergy and Clinical Immunology: Global2772-82932025-05-014210040010.1016/j.jacig.2025.100400A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndromeOskar Schnappauf, PhD0Hongying Wang, PhD1Ivona Aksentijevich, MD2Daniel L. Kastner, MD, PhD3Ronald M. Laxer, MD4Department of Natural Sciences and Institute for Functional Gene Analytics, Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany; Corresponding author: Oskar Schnappauf, PhD, Department of Natural Sciences and Institute for Functional Gene Analytics, Bonn-Rhein-Sieg University of Applied Sciences, Von-Liebig-Str. 20, 53359 Rheinbach, Germany.Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MdInflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MdInflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MdThe Hospital for Sick Children and St Michael’s Hospital, Division of Rheumatology, Departments of Paediatrics and Medicine, GRIID Program, University of Toronto, Toronto, Ontario, CanadaThe 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.http://www.sciencedirect.com/science/article/pii/S2772829325000013Aicardi-Goutières syndromeinterferonopathiesSAMHD1genetic testingcarrier screeningcopy number variation |
| spellingShingle | Oskar Schnappauf, PhD Hongying Wang, PhD Ivona Aksentijevich, MD Daniel L. Kastner, MD, PhD Ronald M. Laxer, MD A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome Journal of Allergy and Clinical Immunology: Global Aicardi-Goutières syndrome interferonopathies SAMHD1 genetic testing carrier screening copy number variation |
| title | A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome |
| title_full | A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome |
| title_fullStr | A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome |
| title_full_unstemmed | A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome |
| title_short | A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome |
| title_sort | 33 year diagnostic odyssey in an ashkenazi jewish patient with aicardi goutieres syndrome |
| topic | Aicardi-Goutières syndrome interferonopathies SAMHD1 genetic testing carrier screening copy number variation |
| url | http://www.sciencedirect.com/science/article/pii/S2772829325000013 |
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