Evaluation of Classic Wiskott Aldrich Syndrome with Mild Symptoms in Two Cousins: A Case Report

Abstract

Introduction: Wiskott–Aldrich syndrome (WAS) is characterized by microthrombocytopenia, eczema, recurrent infections, and an increased incidence of autoimmunity. Commonly, classic WAS is presented with severe clinical symptoms. Case Presentation: We report a new phenotype of classic Wiskott–Aldrich syndrome with mild symptoms in two cousins who were 7 years old. They had not severe infections or hemorrhage, in spite of having genetic mutation in WAS gene. The symptoms and infections of the patients responded to treatment with IVIG and antibiotics. Conclusions: This report is presenting a novel clinical phenotype of classic WAS with milder symptoms.