Publication
Imunodeficiência primária por défice de ZAP-70
| dc.contributor.author | Barata, LT | |
| dc.contributor.author | Henriques, R | |
| dc.contributor.author | Hivroz, C | |
| dc.contributor.author | Jouanguy, E | |
| dc.contributor.author | Paiva, A | |
| dc.contributor.author | Freitas, AM | |
| dc.contributor.author | Coimbra, HB | |
| dc.contributor.author | Fischer, A | |
| dc.contributor.author | Carmona da Mota, H | |
| dc.date.accessioned | 2011-10-24T12:03:08Z | |
| dc.date.available | 2011-10-24T12:03:08Z | |
| dc.date.issued | 2001 | |
| dc.description.abstract | The authors present the case of a child with recurrent infections since the age of 4 months, including bilateral pneumonia by Pneumocystis carinii and protracted varicella. Serum immunoglobulin values (when 10 months old), and B cell values were normal. There was persistent lymphocytic leucocytosis, near absence of CD8+ cells, and an increased CD4/CD8 ratio. The percentage of activated T cells and the expression of HLA class I were normal. Proliferation, activation and IL-2 synthesis studies in T cells showed a TCR/CD3-associated signal transduction deficit. ZAP-70 cDNA sequencing showed a mutation, and no ZAP-70 protein was detected in T cells. ZAP-70 deficiency is associated with a rare immune deficiency with absence of CD8+ T cells as well as a functional deficiency in T cells. Seven months after bone marrow transplantation the child is clinically well and immunologically recovered | por |
| dc.identifier.citation | Acta Med Port. 2001 Jul-Aug;14(4):413-7. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.4/1089 | |
| dc.language.iso | por | por |
| dc.peerreviewed | yes | por |
| dc.subject | Imunodeficiência Primária | por |
| dc.title | Imunodeficiência primária por défice de ZAP-70 | por |
| dc.title.alternative | Primary immunodeficiency secondary to ZAP-70 deficiency | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |