A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 26070885.
- Also identified by DOI 10.1016/j.jaci.2015.03.050 and PMC identifier 4530045.
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Abstract
This study identifies a novel <i>ORAI1</i> mutation that abolishes protein expression, but permits robust lymphocyte proliferation to mitogens. It is important to consider ORAI1 deficiency in the setting of a combined immunodeficiency with normal T cell numbers and residual T cell function.
Medical subject headings
- Calcium Channels
- Fibroblasts
- Immunologic Deficiency Syndromes
- Mutation
- T-Lymphocytes