In contrast, LOF mutations affecting STIM1 results in a combined immunodeficiency (CID) accompanied by autoimmunity, ectodermal dysplasia presented as dental enamel defects and anhydrosis, and non-progressive myopathy characterized by muscular hypotonia and partial iris hypoplasia causing mydriasis [4, 9, 10]. Here, STIM1 is linked to severe combined immunodeficiency.