Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia
Xin Chen, Chunxue Jiang, Wenliang Song, Tingting Sun, Jingli Yan, Wei Xu, Kai You · 2024
Read Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia by Xin Chen, Chunxue Jiang, Wenliang Song, Tingting Sun, Jingli Yan, Wei Xu, Kai You (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11666426.txt.
Description
Xin Chen and co-authors report a toddler whose anemia traced to a gene flaw, in work from 2024. The girl, aged one year and four months, came in with worsening anemia, fever, and cough. Tests showed her own antibodies were breaking her red cells. She then had two bouts of severe lung infection.
Gene scans of her sputum found two infecting microbes. Blood cell checks showed a lack of T cells. Full gene reads found two flaws in RAG1, a gene that builds immune receptors. The pair of flaws and this first sign had not been reported before. The authors map like cases to speed care.
Catalog record
| CREATOR | Xin Chen, Chunxue Jiang, Wenliang Song, Tingting Sun, Jingli Yan, Wei Xu, Kai You |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 31 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |