A report of novel STIM1 deficiency and 6 year follow up of two previous cases associated with mild immunological phenotype [post]

Laura Rice, Claire Stockdale, Ian Berry, Sean O'Riordan, Karen Pysden, Rashida Anwar, Roger Rushanbuza, Moira Blyth, Sonal Srikanth, Yousang Gwack, Clive Carter, Sinisa Savic
2018 unpublished
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
doi:10.31219/osf.io/4duxt fatcat:agx5vlqicncftggwf5sdohyj7y