WISKOTT-ALDRICH SYNDROME

Course overview

WISKOTT-ALDRICH SYNDROME (WAS) IS A RARE X-LINKED DISORDER WHICH CLASSICALLY INCLUDES THE CHARACTERISTIC TRIAD OF IMMUNODEFICIENCY, THROMBOCYTOPENIA, AND ECZEMA. IT RESULTS FROM A GENETIC MUTATION IN THE GENE ENCODING WISKOTT-ALDRICH SYNDROME PROTEIN (WASP). THE DISEASE HAS VARIABLE PRESENTATION RANGING FROM THE SEVERE PHENOTYPE (CLASSIC WAS) TO MILDER ONES (X-LINKED THROMBOCYTOPENIA AND X-LINKED NEUTROPENIA). THIS ACTIVITY DESCRIBES THE PATHOPHYSIOLOGY, ETIOLOGY, PRESENTATION, AND EVALUATION OF WISKOTT-ALDRICH SYNDROME, AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE MANAGEMENT OF AFFECTED PATIENTS.