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A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T cell function
This study identifies a novel ORAI1 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.
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| Опубликовано в: : | J Allergy Clin Immunol |
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| Главные авторы: | , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4530045/ https://ncbi.nlm.nih.gov/pubmed/26070885 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2015.03.050 |
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