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Novel IL2RG Gene Mutation in One of Dizygotic Twins Causing Profound Changes of Receptor Structure
In this study, we report a 4-month-old boy with T(−)B(+)NK(−) severe combined immunodeficiency (SCID) due to a novel mutation in exon 2 of IL2RG, the gene encoding the interleukin (IL) common gamma chain (γc) of the cytokine receptors for IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21. The patient was bor...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9053642/ https://www.ncbi.nlm.nih.gov/pubmed/35498802 http://dx.doi.org/10.3389/fped.2022.858166 |