CHEDIAK HIGASHI SYNDROME

Course overview

CHEDIAK HIGASHI SYNDROME (CHS) IS AN AUTOSOMAL RECESSIVE DISORDER THAT IS CHARACTERIZED BY EASY BRUISING, OCULOCUTANEOUS ALBINISM AND RECURRENT PYOGENIC INFECTIONS. THE DEFECT IS CAUSED BY A MUTATION IN THE LYSOSOMAL TRAFFICKING REGULATOR PROTEIN THAT LEADS TO DECREASED PHAGOCYTOSIS AND PREDISPOSITION TO RECURRENT BACTERIAL INFECTION. THIS ACTIVITY REVIEWS THE EVALUATION AND MANAGEMENT OF CHEDIAK HIGASHI SYNDROME AND EXPLAINS THE ROLE OF THE INTERPROFESSIONAL TEAM IN MANAGING PATIENTS WITH THIS CONDITION.