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Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1287258
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- Publication type:
- Article
Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1186575
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- Publication type:
- Article
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation.
- Published in:
- 2023
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- Publication type:
- Case Study