Several studies have shown that some disorders are associated with STIM1 mutations which lead to immune dysregulation, such as non-syndromic tubular aggregate myopathy, York platelet syndrome and Stormorken syndromes (Lacruz and Feske, 2015; Cordero-Sanchez et al., 2019). The gene discussed is STIM1; the disease is Stormorken-Sjaastad-Langslet syndrome.