Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 30336224.
- Also identified by DOI 10.1016/j.jaci.2018.10.005 and PMC identifier 6387453.
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Abstract
This case demonstrates the essential contribution of the p110δ catalytic 21 domain in adaptive immunity function in a patient with expression of a kinase-dead p110δ mutant.
Medical subject headings
- Class I Phosphatidylinositol 3-Kinases
- Mutation
- Primary Immunodeficiency Diseases
- Sepsis
- T-Lymphocytes