Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 27609655.
- Also identified by DOI 10.1016/j.jaci.2016.07.027 and PMC identifier 5303162.
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Abstract
RAG deficiency is emerging as one of the leading causes of SCID and leaky SCID with an estimated incidence of 1:336,000. Hypomorphic mutations in the <i>RAG</i> genes can also lead to highly variable delayed-onset combined immunodeficiency diseases. We estimate the population genetic frequency of these hypomorphic diseases as up to 1:181,000, suggesting that <i>RAG1/2</i> mutations are likely to contribute to undiagnosed cases of combined immunodeficiencies.
Medical subject headings
- DNA-Binding Proteins
- Databases, Nucleic Acid
- Exome
- Homeodomain Proteins
- Mutation
- Nuclear Proteins
- Severe Combined Immunodeficiency