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Abstract

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.