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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Vydáno v:J Allergy Clin Immunol
Hlavní autoři: Chou, Janet, Badran, Yousef R., Yee, Christina S. K., Bainter, Wayne, Ohsumi, Toshiro K., Al-Hammadi, Suleiman, Pai, Sung-Yun, Feske, Stefan, Geha, Raif S.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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Article
On-line přístup: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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