title: Wiskott-Aldrich syndrome caused by a new mutation associated with multifocal dermal juvenile xanthogranulomas.
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.
authors.affiliation: Department of Pediatrics, Center for Diagnosis and Treatment of Primary Immunodeficiencies, Martin, Slovakia.
authors.forename: Milos
authors.initials: M
authors.lastname: Jesenak
authors.forename: Ivana
authors.initials: I
authors.lastname: Plamenova
authors.forename: Lukas
authors.initials: L
authors.lastname: Plank
authors.forename: Peter
authors.initials: P
authors.lastname: Banovcin
mesh_terms: D015415:Biomarkers; D020405:Dermis / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*; D014972:Xanthogranuloma, Juvenile / Q000235:genetics* / Q000276:immunology / Q000473:pathology
chemical_list: D015415:Biomarkers; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein