Transporter associated with antigen processing deficiency syndrome: Case report of an adolescent with chronic perforated granulomatous skin lesions due to TAP2 mutation

Pediatric Dermatology

Volumn 30, Issue 6, 2013, Pages

  Konstantinou, Paschalis ^a   Kanariou, Maria ^b   Giliani, Silvia C ^c   Pantelidaki, Aikaterini ^a   Kokolakis, Athanasios ^a   Tosca, Androniki ^a  

^a UNIVERSITY HOSPITAL OF HERAKLION   (Greece)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^c UNIVERSITY OF BRESCIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CLARITHROMYCIN; HLA A ANTIGEN; HLA B ANTIGEN; HLA C ANTIGEN;

ACANTHOSIS; ADOLESCENT; ANTIBIOTIC THERAPY; ANTIGEN PRESENTATION; ARTICLE; BRONCHIECTASIS; BRONCHOPNEUMONIA; CASE REPORT; CD8+ T LYMPHOCYTE; CHROMOSOME 6; COMPUTER ASSISTED TOMOGRAPHY; DESTRUCTION; DNA SEQUENCE; EPIDERMIS; EXON; GRANULOMA; GRANULOMATOSIS; HAIR FOLLICLE; HEARING IMPAIRMENT; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; IMMUNOPHENOTYPING; LEG DISEASE; LIFE EXPECTANCY; LOWER RESPIRATORY TRACT INFECTION; MALE; NONSENSE MUTATION; OTITIS MEDIA; PAPULE; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; QUALITY OF LIFE; RESPIRATORY TRACT INFECTION; SKIN DEFECT; STAPHYLOCOCCUS AUREUS; SYNDROME; TRANSPORTER ASSOCIATED WITH ANTIGEN PROCESSING DEFICIENCY SYNDROME; UPPER RESPIRATORY TRACT INFECTION;

ADOLESCENT; ANTIGEN PRESENTATION; ATP-BINDING CASSETTE TRANSPORTERS; BIOPSY; CODON, NONSENSE; GRANULOMATOUS DISEASE, CHRONIC; HOMOZYGOTE; HUMANS; INFECTION; MALE;

EID: 84887628703     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/pde.12151     Document Type: Article

References (6)

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