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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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| Publicado no: | PLoS One |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2015
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| Assuntos: | |
| Acesso em linha: | 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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