Wiskott-Aldrich Syndrome Caused by a New Mutation Associated with Multifocal Dermal Juvenile Xanthogranulomas


Address correspondence to Milos Jesenak, M.D., Ph.D., M.B.A., Department of Pediatrics, Center for Diagnosis and Treatment of Primary Immunodeficiencies, Jessenius Faculty of Medicine, Martin 036 59, Slovakia, or e-mail: jesenak@gmail.com.


Wiskott-Aldrich syndrome is a rare X-linked primary immunodeficiency clinically characterized by the triad of microthrombocytopenia, immunodeficiency, and eczema. Juvenile xanthogranuloma is a well-recognized benign disorder of infancy and early childhood from the group of non-Langerhans cell histiocytoses, with a good prognosis and spontaneous involution. We report a boy with Wiskott-Aldrich syndrome caused by a new, not previously described mutation associated with multifocal juvenile xanthogranuloma.