A novel mutation for TAP deficiency and its possible association with Toxoplasmosis.
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.
Doğu
Figen
F
Ankara University School of Medicine, Department of Pediatric Immunology-Allergy, and Dr. Sami Ulus Chidren's Hospital, Ankara, Turkey. efdogu@yahoo.com
Ikincioğullari
Aydan
A
Fricker
Dominique
D
Bozdoğan
Günseli
G
Aytekin
Caner
C
Ileri
Meltem
M
Teziç
Tahsin
T
Babacan
Emel
E
De La Salle
Henri
H
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
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