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| Sugayama,S.M.M.; Arslanian,C.; Sales,M.M.; Carneiro-Sampaio,M.. |
| Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, mental and growth deficiency, and recurrent respiratory infections. RTS has been associated with CREBBP gene mutations, but EP300 gene mutations have recently been reported in 6 individuals. In the present study, the humoral immune response in 16 RTS patients with recurrent respiratory infections of possible bacterial etiology was evaluated. No significant differences between patients and 16 healthy controls were detected to explain the high susceptibility to respiratory infections: normal or elevated serum immunoglobulin levels, normal salivary IgA levels, and a good antibody response to both polysaccharide and protein... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Rubinstein-Taybi syndrome; High IgM levels; B lymphocyte; Antibody response. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010001200011 |
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| Levy,A.; Rangel-Santos,A.; Torres,L.C.; Silveira-Abreu,G.; Agena,F.; Carneiro-Sampaio,M.. |
| The thymus is a primary lymphoid organ responsible for the maturation of T cells as well as the immunological central tolerance. It is in the antenatal period and infancy that it plays its major role. In clinical practice, T cell receptor excision circles (TRECs) are considered a direct and reliable measure of the thymic function. TRECs are a by-product of DNA formation in gene rearrangement of T cell receptors. They are stable and they do not duplicate during mitosis, representing the recent emigrant T cells from the thymus. Despite their importance, TRECs have been neglected by physicians and there is a lack of data regarding thymic function during infancy of healthy children. In order to evaluate thymic function in the first years of life, we propose... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Human thymus; TRECs; Thymic function; Infants. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019000700601 |
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