title: Transporter associated with antigen processing deficiency syndrome: case report of an adolescent with chronic perforated granulomatous skin lesions due to TAP2 mutation.
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.
authors.affiliation: Department of Dermatology and Venerology, University Hospital, Heraklion Crete, Greece.
authors.forename: Paschalis
authors.initials: P
authors.lastname: Konstantinou
authors.forename: Maria
authors.initials: M
authors.lastname: Kanariou
authors.forename: Silvia C
authors.initials: SC
authors.lastname: Giliani
authors.forename: Aikaterini
authors.initials: A
authors.lastname: Pantelidaki
authors.forename: Athanasios
authors.initials: A
authors.lastname: Kokolakis
authors.forename: Androniki
authors.initials: A
authors.lastname: Tosca
mesh_terms: D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000276:immunology; D000293:Adolescent; D017951:Antigen Presentation / Q000235:genetics* / Q000276:immunology; D001706:Biopsy; D018389:Codon, Nonsense; D006105:Granulomatous Disease, Chronic / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007239:Infections / Q000235:genetics / Q000276:immunology; D008297:Male
chemical_list: D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense; C071692:TAP2 protein, human