Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome
Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome
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Publisher
United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 Rag1 or Rag2 genes, the protein products of which...
Alternative Titles
Full title
Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome
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TN_cdi_plos_journals_1671014028
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1671014028
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0121489
