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Wiskott‐Aldrich Syndrome Caused by a New Mutation Associated with Multifocal Dermal Juvenile Xanthogranulomas
Author(s) -
Jesenak Milos,
Plamenova Ivana,
Plank Lukas,
Banovcin Peter
Publication year - 2012
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12040
Subject(s) - juvenile xanthogranuloma , wiskott–aldrich syndrome , medicine , primary immunodeficiency , immunodeficiency , involution (esoterism) , juvenile , dermatology , immunology , histiocyte , biology , genetics , immune system , consciousness , neuroscience , gene
Abstract Wiskott‐ A ldrich 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‐ L angerhans cell histiocytoses, with a good prognosis and spontaneous involution. We report a boy with W iskott‐ A ldrich syndrome caused by a new, not previously described mutation associated with multifocal juvenile xanthogranuloma.