Premium
Transporter Associated with Antigen Processing Deficiency Syndrome: Case Report of an Adolescent with Chronic Perforated Granulomatous Skin Lesions Due to TAP 2 Mutation
Author(s) -
Konstantinou Paschalis,
Kanariou Maria,
Giliani Silvia C.,
Pantelidaki Aikaterini,
Kokolakis Athanasios,
Tosca Androniki
Publication year - 2013
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.12151
Subject(s) - medicine , consanguinity , otitis , chronic granulomatous disease , mutation , immunology , pediatrics , surgery , gene , genetics , biology
A previously unreported case of transporter associated with antigen processing ( TAP ) deficiency syndrome (with no parental consanguinity) due to a homozygous TAP 2 mutation is presented. Characteristic nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections led to this boy being diagnosed at 15 years old. The role of the dermatologist was crucial in making the correct diagnosis and thereby positively influencing the quality of life and life expectancy of this boy.