| Autor: |
Wenya Qian, Min Wu, Guanling Wang |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Case Reports in Medicine, Vol 2024 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1687-9635 |
| DOI: |
10.1155/2024/4278595 |
| Popis: |
We report a case of T-B+NK+ severe combined immunodeficiency disease (SCID) caused by IL2RG gene mutation (NM_000206.3 [IL2RG]: c.925-2A > G). The patient, a 2-month-old male, experienced multiple infections and decreased white blood cells in the early postnatal period. Antibiotic treatment was ineffective and ultimately resulted in multiple organ failure. The second-generation gene sequencing of patient showed that the IL2RG gene had a hemizygous mutation NM_000206.3 (IL2RG): c.925-2A > G, indicating a classical splice site mutation. According to the guidelines of the American College of Medical Genetics (ACMG), NM_00206.3 (IL2RG): c.925-2A > G variants can be classified as pathogenic (PVS1&PM1&PM6). |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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