RBCK1 and immune system disorder: RBCK1 (HOIL-1) deficiency can manifest either as an autosomal recessive lethal immunodeficiency with autoinflammation and polyglucosan accumulation in muscle, heart, and liver or as polyglucosan body myopathy type 1 (PGM) with severe dilated cardiomyopathy and polyglucosan bodies found in skeletal muscle and heart [64].