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A novel mutation for TAP deficiency and its possible association with Toxoplasmosis.
- Source :
-
Parasitology international [Parasitol Int] 2006 Sep; Vol. 55 (3), pp. 219-22. Date of Electronic Publication: 2006 Apr 19. - Publication Year :
- 2006
-
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.
- Subjects :
- ATP Binding Cassette Transporter, Subfamily B, Member 2
Adult
B-Lymphocytes immunology
Child
Codon, Nonsense
Consanguinity
Female
Humans
Immunoglobulin A blood
Immunoglobulin G blood
Leukocytes, Mononuclear
Male
Toxoplasmosis physiopathology
ATP-Binding Cassette Transporters genetics
Genes, MHC Class I
Point Mutation
Toxoplasmosis genetics
Toxoplasmosis immunology
Subjects
Details
- Language :
- English
- ISSN :
- 1383-5769
- Volume :
- 55
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Parasitology international
- Publication Type :
- Academic Journal
- Accession number :
- 16624613
- Full Text :
- https://doi.org/10.1016/j.parint.2006.02.003