Transporter Associated with Antigen Processing Deficiency Syndrome: Case Report of an Adolescent with Chronic Perforated Granulomatous Skin Lesions Due to TAP2 Mutation

Authors

  • Paschalis Konstantinou M.D.,

    Corresponding author
    1. Department of Dermatology and Venerology, University Hospital, Heraklion Crete, Greece
    • Address correspondence to Paschalis Konstantinou, M.D., Department of Dermatology and Venerology, University Hospital of Heraklion, 71110, Voutes, Heraklion, Crete, Greece, or e-mail: pascalinou@gmail.com.

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  • Maria Kanariou M.D.,

    1. Department of Immunology-Histocompatibility, Specific Center and Referral Center for Primary Immunodeficiencies—Pediatric Immunology, Aghia Sophia Children's Hospital, Athens, Greece
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  • Silvia C. Giliani Ph.D.,

    1. A. Nocivelli, Institute for Molecular Medicine and Pediatric Clinic, University of Brescia, Brescia, Italy
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  • Aikaterini Pantelidaki M.D.,

    1. Department of Dermatology and Venerology, University Hospital, Heraklion Crete, Greece
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  • Athanasios Kokolakis M.D.,

    1. Department of Dermatology and Venerology, University Hospital, Heraklion Crete, Greece
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  • Androniki Tosca M.D., Ph.D.

    1. Department of Dermatology and Venerology, University Hospital, Heraklion Crete, Greece
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Abstract

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.

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