A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype

Laura Rice,Claire Stockdale,Ian Berry,Sean O’Riordan,Karen Pysden,Rashida Anwar, Roger Rushambuza,Moira Blyth,Sonal Srikanth,Yousang Gwack,Yasser M. El-Sherbiny,Clive Carter,Sinisa Savic

Journal of Clinical Immunology（2019）

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摘要

Loss of function or null mutations of Stromal interaction molecule 1 (STIM1) are known to cause early-onset combined immunodeficiency (CID) disease with recurrent and chronic infections, autoimmunity, haemolytic anaemia, ectodermal dysplasia, muscular weakness and myalgia. here we report of novel STIM1 deficiency and 6 year follow up of two previous cases associated with mild immunological phenotype

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