Premium
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
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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom