Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.4/1089
Título: Imunodeficiência primária por défice de ZAP-70
Outros títulos: Primary immunodeficiency secondary to ZAP-70 deficiency
Autor: Barata, LT
Henriques, R
Hivroz, C
Jouanguy, E
Paiva, A
Freitas, AM
Coimbra, HB
Fischer, A
Carmona da Mota, H
Palavras-chave: Imunodeficiência Primária
Data: 2001
Citação: Acta Med Port. 2001 Jul-Aug;14(4):413-7.
Resumo: 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
Peer review: yes
URI: http://hdl.handle.net/10400.4/1089
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