Chediak Higashi

  • Defect in biosynthesis and storage of malanosomes/sysosome proteins → Chediak Higashi
    • Silvery hair
    • OCA
    • Prolonged bleeding time
    • Neurologic dysfxn
    • Immunodeficiency (absence of lytic granules in cytotoxic lymphocytes)
    • Gingivitis and periodontitis