Heterozygous mutations in the gene STIM1 have been identified as the cause of Stormorken syndrome, a complex phenotype comprising a bleeding diathesis, asplenia, miosis, ichthyosis, and tubular aggregate myopathy [1–4]. In addition heterozygous STIM1 mutations are reported in non-syndromic tubular aggregate myopathies (TAM) with miosis [5–8] and York platelet syndrome (YPS) [9], a thrombocytopenia disorder [9]. Recessive mutations have been reported in immunodeficiency and Kaposi’s sarcoma [10–12].

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