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Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome
Omenn syndrome is a primary immunodeficiency disorder, featuring susceptibility to infections and autoreactive T cells and resulting from defective genomic rearrangement of genes for the T cell and B cell receptors. The most frequent etiologies are hypomorphic mutations in “non-core” regions of the...
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| 出版年: | PLoS One |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Public Library of Science
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4388548/ https://ncbi.nlm.nih.gov/pubmed/25849362 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0121489 |
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