CAIO ROBLEDO D'ANGIOLI COSTA QUAIO
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- Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region(2012) SOARES, Diogo Cordeiro de Queiroz; DUTRA, Roberta Lelis; QUAIO, Caio Robledo D'angioli Costa; MELARAGNO, Maria Isabel; KULIKOWSKI, Leslie Domenici; TORRES, Leuridan Cavalcante; KIM, Chong Ae
- Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases(2020) MONTENEGRO, Marilia M.; QUAIO, Caio R.; PALMEIRA, Patricia; GASPARINI, Yanca; RANGEL-SANTOS, Andreia; DAMASCENO, Julian; NOVAK, Estela M.; GIMENEZ, Thamires M.; YAMAMOTO, Guilherme L.; RONJO, Rachel S.; NOVO-FILHO, Gil M.; CHEHIMI, Samar N.; ZANARDO, Evelin A.; DIAS, Alexandre T.; NASCIMENTO, Amom M.; COSTA, Thais V. M. M.; DUARTE, Alberto J. da S.; COUTINHO, Luiz L.; KIM, Chong A.; KULIKOWSKI, Leslie D.Background Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias at early age. Cytogenetic test for sister chromatid exchanges (SCEs) is used as a diagnostic marker for BS. In addition, most patients also present mutations in the & x202f;BLM & x202f;gene, related to defects in the DNA repair mechanism. However, the molecular mechanism behind the pathogenicity of BS is & x202f;still & x202f;not completely understood. Methods We describe two patients confirmed with BS by SCE and molecular analysis. Also, we performed the gene expression profile by the RNA-seq methodology in mRNA transcripts for differential gene expression analysis using as a biological condition for comparison BS versus health controls. Results We detected 216 differentially expressed genes related to immunological pathways such as positive regulation and activation of B cells, immune effector process and absence of difference of DNA repair genes expression. In addition; we also observed differentially expressed genes associated with apoptosis control, such as BCL2L1, CASP7, CDKN1A, E2F2, ITPR, CD274, TNFAIP6, TNFRSF25, TNFRSF13C, and TNFRSF17. Conclusion Our results suggest that the combination of altered expression of genes involved in signaling pathways of immune response and apoptosis control may contribute directly to the main characteristics observed in BS, such as recurrent infections, growth failure, and high risk of cancer. Transcriptome studies of other instability syndromes could allow a more accurate analysis of the relevant gene interactions associated with the destabilization of the genome. This is a first description of the profile of differential gene expression related to immunological aspects detected in patients with BS by RNA-seq.
- A Possible Role of Different PTPN Genes in Immune Regulation(2012) QUAIO, C. R. D. C.; DUTRA, R. L.; BRASIL, A. S.; PEREIRA, A. C.; KIM, C. A.; BERTOLA, D. R.
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.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.