Importantly, the genetic deficiency of Sharpin in mice (cpdm mice) causes early-onset severe dermatitis (Gijbels et al., 1995), and mutations in human RBCK1 are known to cause polyglucosan body myopathy type 1 (PGBM1), with or without immunodeficiency (OMIM ID; 610924) (Boisson et al., 2012). The gene discussed is SHARPIN; the disease is polyglucosan body myopathy 1 with or without immunodeficiency.