Transporter Associated with Antigen Processing Deficiency Syndrome: Case Report of an Adolescent with Chronic Perforated Granulomatous Skin Lesions Due to TAP2 Mutation
Article first published online: 13 MAY 2013
© 2013 Wiley Periodicals, Inc.
Volume 30, Issue 6, pages e223–e225, November/December 2013
How to Cite
Konstantinou, P., Kanariou, M., Giliani, S. C., Pantelidaki, A., Kokolakis, A. and Tosca, A. (2013), Transporter Associated with Antigen Processing Deficiency Syndrome: Case Report of an Adolescent with Chronic Perforated Granulomatous Skin Lesions Due to TAP2 Mutation. Pediatric Dermatology, 30: e223–e225. doi: 10.1111/pde.12151
- Issue published online: 13 NOV 2013
- Article first published online: 13 MAY 2013
A previously unreported case of transporter associated with antigen processing (TAP) deficiency syndrome (with no parental consanguinity) due to a homozygous TAP2 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.