title: A novel mutation for TAP deficiency and its possible association with Toxoplasmosis.
abstract: We describe two siblings (a male patient and his older sister) with a novel mutation in the peptide transporter associated to antigen processing (TAP). The index case presented with not only granulomatous skin lesions and recurrent sino-pulmonary infections, often associated with this deficiency, but also a severe pulmonary toxoplasmosis. His toxoplasmosis and skin lesions were successfully treated.
authors.affiliation: Ankara University School of Medicine, Department of Pediatric Immunology-Allergy, and Dr. Sami Ulus Chidren's Hospital, Ankara, Turkey. efdogu@yahoo.com
authors.forename: Figen
authors.initials: F
authors.lastname: Doğu
authors.forename: Aydan
authors.initials: A
authors.lastname: Ikincioğullari
authors.forename: Dominique
authors.initials: D
authors.lastname: Fricker
authors.forename: Günseli
authors.initials: G
authors.lastname: Bozdoğan
authors.forename: Caner
authors.initials: C
authors.lastname: Aytekin
authors.forename: Meltem
authors.initials: M
authors.lastname: Ileri
authors.forename: Tahsin
authors.initials: T
authors.lastname: Teziç
authors.forename: Emel
authors.initials: E
authors.lastname: Babacan
authors.forename: Henri
authors.initials: H
authors.lastname: De La Salle
mesh_terms: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D001402:B-Lymphocytes / Q000276:immunology; D002648:Child; D018389:Codon, Nonsense; D003241:Consanguinity; D005260:Female; D005805:Genes, MHC Class I; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007963:Leukocytes, Mononuclear; D008297:Male; D017354:Point Mutation; D014123:Toxoplasmosis / Q000235:genetics* / Q000276:immunology* / Q000503:physiopathology
chemical_list: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense; D007070:Immunoglobulin A; D007074:Immunoglobulin G; C073119:TAP1 protein, human