Transporter associated with antigen processing deficiency syndrome: case report of an adolescent with chronic perforated granulomatous skin lesions due to TAP2 mutation.
Pediatr Dermatol
; 30(6): e223-5, 2013.
Article
em En
| MEDLINE
| ID: mdl-23662797
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Apresentação de Antígeno
/
Códon sem Sentido
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Transportadores de Cassetes de Ligação de ATP
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Doença Granulomatosa Crônica
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Grécia