JOSE FRANCISCO DA SILVA FRANCO
Projetos de Pesquisa
Unidades Organizacionais
3 resultados
Resultados de Busca
Agora exibindo 1 - 3 de 3
conferenceObject NATURAL KILLER CELL DEFICIENCY IN PATIENTS WITH MUCOPOLYSACCHARIDOSES(2012) TORRES, L. C.; QUAIO, C. R. D. C.; FRANCO, J. F.; GOMY, I.; BERTOLA, D. R.; KULIKOWSKI, L. D.; SAMPAIO, M. Carneiro; KIM, C. A.Mucopolysaccharidoses (MPSs) are a group of inherited metabolic disorders characterized by the deficient activity of catabolic enzymes in the lysosomes and its consequent abnormal accumulation of deposits of glycosaminoglycans. The lysosomal dysfuction caused by this irregular storage is responsible for the clinical manifestations seen in MPS. Once the lysosome is also important for normal functioning of the immune system, playing a key role in the expression of cellular membrane receptors, the presentation of antigens, the secretion of cytokines and phagocytosis, we presume that these processes may be impaired in patients with MPS. The presence of recurrent respiratory infections in these individuals may be a clinical clue of the immune dysregulation in MPSs. Natural Killer (NK) cells play an important role in first-line, innate defense against viral infection and tumor transformation. Their activation is the net result of signals emanating of inhibitory and activating receptors, among which the NKG2D activating receptor plays a major role. We evaluated the innate immunity of 15 patients with MPSs types I, II, IV and VI and performed the immunophenotyping of NK cells and the NKG2D receptors expression by Flow Cytometry. All MPSs patients have NK cells deficiency and decreased NKG2D receptors expression on NK cells in 2 patients. We report here that MPSs patients have a deficiency of innate immunity with NK cells deficiency. To the best of our knowledge, these findings have not been previously described.- Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings(2016) FRANCO, J. F.; SOARES, D. C.; TORRES, L. C.; LEAL, G. N.; CUNHA, M. T.; HONJO, R. S.; BERTOLA, D. R.; KIM, C. A.Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive multisystem lysosomal storage disorder, which is characterized by the deficiency of the enzyme arylsulfatase B encoded by the ARSB gene. Treatment of this disease with enzyme-replacement therapy (ERT) improves the clinical status of and generates hope for MPS VI patients. However, only few reports on patients with MPS VI treated before 5 years of age have been published. Thus, the objective of this study was to compare the clinical parameters of two sisters affected by MPS VI who started ERT at different ages (9 years and 1 year 5 months, respectively) and to determine the most relevant clinical impacts of early treatment after 85 months of evaluation. The treatment was well tolerated by both siblings. ERT in the younger sibling resulted in increased growth, an improved 6-minute walk test, less coarse face, slower progression of cardiac valve disease, and the absence of compressive myelopathy compared to that in her older sister. On the other hand, the older sibling had typical MPS VI phenotypic features before the commencement of ERT. Corneal clouding, clawed hands, and progressive skeletal changes were observed in both siblings despite the treatment. Both siblings displayed reduced frequencies of upper respiratory infections and apnea indices. This study emphasizes that early diagnosis and treatment of MPS VI are critical for a better disease outcome and to enhance the quality of life for these patients.
conferenceObject MUCOPOLYSSACCHARIDOSES TYPE IV: CASE OF A PATIENT WITH HUMORAL RESPONSE DEFICIENCY(2012) TORRES, L. C.; SOARES, D. C.; QUAIO, C. R. D. C.; FRANCO, J. F.; GOMY, I.; KULIKOWSKI, L. D.; BERTOLA, D. R.; SAMPAIO, M. Carneiro; KIM, C. A.The mucopolysaccharidoses (MPSs) are a group of rare diseases characterized by deficiencies in different enzymes required for degradation of complex carbohydrates. The enzymatic deficiencies lead to abnormal accumulation of deposits of glycosaminoglycans. Once the lysosome is important for normal functioning of the immune system, playing a key role in the expression of cellular membrane receptors, the presentation of antigens, the secretion of cytokines and phagocytosis. We presume that these processes may be impaired in patients with MPSs. The presence of recurrent respiratory infections in these individuals may be a clinical clue of the immune dysregulation in MPSs. Humoral immunity refers to antibody production by B cells. Antibodies play role of pathogen and toxin neutralization, classical complement activation, and opsonin promotion of phagocytosis and pathogen elimination. We evaluated the humoral and cellular immunity of a male patient with 20 years old with MPSs type IV. We performed the measurement of total serum antibodies IgG, IgM, IgA and IgE and immunophenotyping of B and T cells. The patient present low levels of total IgM and IgA antibodies with normal levels of total IgG and IgE antibodies. B cell and B- memory deficiency was observed. Relative values of TCD4+ and TCD8+ cells were normal in this patient. We report here that this patient have a defect of humoral immunity with B cells deficiency and low levels of IgM and IgA serum antibodies. This is the first report at literature of a MPSs type IV patient with humoral immunodeficiency.