Navegando por Palavras-chave "Immunodeficiency"
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- ItemAcesso aberto (Open Access)Doença do enxerto contra hospedeiro pós-transfusional-guia para irradiação gama de hemocomponentes(Associação Médica Brasileira, 1999-07-01) Landi, E.p. [UNIFESP]; Oliveira, José Salvador Rodrigues de [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Transfusion-associated graft-versus-host disease (TA-GVHD) is a rare and usuailly fatal syndrome. Clinical manifestations are fever, maculopapular skin rash, nausea, vomiting, diarrhea, hepatitis and pancytopenia owing to bone marrow hypoplasia. lt can occur in recipients with severe immunossuppression and in immunocompetent recipients after transfusion of ceillular components from HLA homozygous donor to recipients heterozygous for that HLA haplotype. The diagnosis is made by clinical manifestation and skin biopsy. Antithymocyte globulin and high dose systemic corticosteroids are both the most used therapy. The back of knowledge about this syndrome, the rapid evolution and the absence of treatement response are related to patients bad evolution. Gamma irradiation of blood products has been the mainstay of TA-GVHD prevention. Dose of 2500 cGy is required to completly inactivate T cells. lrradiation damage red cells membrane and the red celis units can not be storage for long time after irradiation. High potassium levels is the mainly change in red cells units.White cell-reduction filters do not prevent TA-GVHD and gamma irradiation does not prevent alloimmunization or blood reactions. Oniy cellular components like whole blood, red cells, platelets and granulocytes need be irradiated. Ali blood components should be irradiated to: first or second-degree relatives, patients need HLA-matched platelets, recipients of allogeneic or autologous bone marrow transplantation, patients with Hodgkin's disease, patients treated with purine analogue drugs, intrauterine transfusions, pre-term infants and when congenítal immunodeficiency states is suspected. lt is recomended irrradiated blood to patients with neoplastic disease when they receive intensive chemoterapy.
- ItemSomente MetadadadosExperiências de um centro de referência em Erros Inatos da Imunidade (EII) no interior de São Paulo(Universidade Federal de São Paulo (UNIFESP), 2021) Ain, Ana Carolina Da Matta [UNIFESP]; Condino Neto, Antonio [UNIFESP]; Universidade Federal de São PauloIntroduction: The Inborn Errors of Immunity (IEI) are a group of congenital, genetic and hereditary diseases that cause immunological alterations with an increase in infections, autoimmunity, autoinflammatory diseases, atopy or malignancy. Objective: To describe the clinical profile of patients in the Pediatric Immunology Service linked to the Municipal University Hospital of Taubaté (HMUT) and of patients who had an extended neonatal screening test altered for inborn errors of immunity (NSTIEII) performed at the HMUT. Methods: This was a retrospective cross-sectional study, carried out by collecting data from the medical records of patients with IEI followed up in the service between 2014 and 2020, analyzing the profile of these patients and those who presented changes in NSTIEII between 2016 and 2020. Results: Assessed - 112 patients with a diagnosis of EII attended at the service (study 1), divided into predominant antibody deficiencies (41.1%), combined immunodeficiency with associated or syndromic characteristics (10.7%), congenital phagocyte defects (3.6%), immunodeficiency affecting cellular and humoral immunity (1.8%), immune dysregulation diseases (0.9%), probable diagnosis of IEI (42.0%). Between 2016 and 2020, 2679 NSTIEII were performed and 33 altered results were found (study 2), with cases of severe combined immunodeficiency (SCID), agammaglobulinemia, actinopathy, trisomy 21 and hypogammaglobulinemia. Twelve patients are still under investigation and 9 with IIE later discarded. When describing the patients in study 1 and study 2, we could observe male prevalence, presence of allergies, hospitalization (79.5% x 75.8%), admission to the NICU (40.2% x 45.5%) and 22.3% in pediatric ICU (with p<0.001) x 30.3%. The use of intravenous immunoglobulin was 49.1% x 39.4% respectively. Mortality was 6.3% (study 1) x 18.2% (study 2). There was greater administration of immunoglobulin and mortality among patients who underwent postnatal TREC and KREC collection. Conclusion: The clinical profile of patients with IEI from the Pediatric Immunology Service linked to the HMUT was described,demonstrating that there was a great delay in diagnosis. The most frequent class of IEI was the predominant antibody deficiency and the presence of hospitalization, especially in the pediatric ICU, proved to be important among these patients. The performance of TNEII is feasible and can be used. It should be considered that it is possible to make the diagnosis and the appropriate treatment, in addition to setting up a reference center for IEI in the interior of the country.
- ItemAcesso aberto (Open Access)Expressão de CD40 e CD40-L e produção de citocinas em pacientes com ataxiatelangiectasia(Universidade Federal de São Paulo (UNIFESP), 2015-08-07) Pereira, Camila Teles Machado [UNIFESP]; Carvalho, Beatriz Tavares Costa [UNIFESP]; Brunialti, Milena Karina Coló [UNIFESP]; http://lattes.cnpq.br/2436779761959661; http://lattes.cnpq.br/1072990929102111; http://lattes.cnpq.br/5704530671980850; Universidade Federal de São Paulo (UNIFESP)A deficiência imunológica que acompanha os pacientes com ataxia telangiectasia (AT) é bastante variável e geralmente combinada. As alterações humorais mais comuns incluem redução no número de linfócitos B, nos níveis de IgG, IgA e IgE e ausência de resposta a antígenos proteicos e polissacarídeos. Além disso, aproximadamente 10% dos pacientes apresenta níveis elevados de IgM, sugerindo um defeito na recombinação (ou switch) de classe dos linfócitos B, assim como ocorre na síndrome de Hiper-IgM. Diante destas alterações, objetivamos pesquisar, em pacientes com AT, algumas etapas do complexo processo que culmina com a produção de Ig, como a expressão de CD40 nas células B e CD40L nos linfócitos T e a produção de citocinas envolvidas. Materiais e Métodos. Foi coletado sangue periférico de 18 pacientes atendidos na Disciplina de Imunologia da UNIFESP e de 8 controles pareados por gênero e idade. Logo após a coleta, 5 mL eram utilizados para imunofenotipagem de linfócitos. Os outros 10 mL eram centrifugados e separados em plasma e células mononucleares periféricas (PBMC) e, então, congelados. As células mononucleares, após descongelamento, eram divididas em 2 poços, um com acetato miristato forbol (PMA) e ionomicina para estimular as células a expressarem CD40-L. Após 3 horas de ativação, as células eram marcadas com anticorpos monoclonais conjugados a fluorescência e os eventos analisados no citômetro de fluxo. Após o descongelamento do plasma, foram dosadas as citocinas envolvidas na recombinação de classe (IL-6, IFN-y e TGF-beta), e a IgM e IgA séricas. Associação linear entre IgM e expressão de CD40 foi medida através da correlação de Pearson, enquanto a correlação de Spearman foi usada para relacionar IgA e TGF-beta. Análise estatística foi realizada com os programas SPSS 20.0 e STATA 12. Resultados. A expressão de CD40 nos pacientes foi significativamente menor que nos controles (AT= 69.9%; C= 87.4%; p<0.001). Para CD40L não se observou diferença. Em relação às citocinas, não houve diferenças de médias de IL-6 (p=0,487), IFN-y (p=0,922) e TGF-beta (p=0,053) entre os grupos caso e controle. Não foi observada correlação de Pearson (rP) significante entre CD40 e IgM tanto no grupo caso (rP = 0,243, p=0,332) como no grupo controle (rP = -0,216, p=0,607), nem correlação de Spearman (rS) significante entre TGF-beta e IgA no grupo caso (rS = 0,301, p=0,225) ou no grupo controle (rS = - 0,577, p=0,134). Discussão. O padrão de anticorpos encontrado nos pacientes indica um defeito no processo de recombinação de classe. Além disso, o nível de linfócitos B foi significativamente mais baixo nos pacientes que nos controles (p<0,001), assim como a expressão de CD40 (média casos= 69,9%; média controles= 87,4%; p<0,001). Sugerimos, portanto, que além de a deficiência da ATM causar defeito no reparo do DNA, parece haver um outro defeito que contribui para a inadequada produção de anticorpos e que seria expressão deficiente de CD40 pelos linfócitos B, característica dos pacientes com SHIgM do tipo 3.
- ItemAcesso aberto (Open Access)Metabolic and hematologic changes occurring after rapid intravenous infusion of gammaglobulin in patients with antibody deficiency syndromes(Associação Paulista de Medicina - APM, 1998-09-01) Costa-Carvalho, Beatriz Tavares [UNIFESP]; Lin, Marisa [UNIFESP]; Solé, Dirceu [UNIFESP]; Carneiro-Sampaio, Magda Maria Sales; Sorensen, Ricardo Uhr; Naspitz, Charles Kirov [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Instituto de Ciências Biomédicas III; Louisiana State University Medical CenterOBJECTIVE: We wished to investigate whether increased IgG infusion rates are associated with metabolic and hematologic changes in pediatric patients with antibody deficiency syndromes.METHODS: We studied 7 patients (2-16 years old) with primary antibody deficiencies who had been on regular IgG replacement treatment, 350-600 mg/kg/dose every 3 weeks with a 3% IVIG preparation, for periods ranging from 6 months to 4 years. Initially, the IgG concentration of IVIG preparations was increased to 6, 9 and 12% in consecutive infusions at a constant IgG infusion rate of 4 mg/kg/min. Subsequently, the infusion rates were increased to 8, 12, and 16 mg/kg/min using the IVIG 12% preparation.RESULTS: Clinically, all patients tolerated increases in IVIG concentrations while the infusion rate was 4 mg/kg/min. However, 3 patients presented side effects when the infusion rate was increased to 8 and 16 mg/kg/min.CONCLUSION: We conclude that metabolic and hematologic sides effects occur with rapid infusion of IVIG even in patients who tolerate the increased infusion rate clinically. The advantages of using high infusion rates have to be re-evaluated.
- ItemSomente MetadadadosRole of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region(Elsevier B.V., 2012-10-01) Queiroz Soares, Diogo Cordeiro de; Dutra, Roberta Lelis; D'angioli Costa Quaio, Caio Robledo; Melaragno, Maria Isabel [UNIFESP]; Kulikowski, Leslie Domenici; Torres, Leuridan Cavalcante; Kim, Chong Ae; Inst Med Integral Prof Fernando Figueira IMIP; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
- ItemSomente MetadadadosSkipping of exon 30 in C5 gene results in complete human C5 deficiency and demonstrates the importance of C5d and CUB domains for stability(Elsevier B.V., 2009-06-01) Aguilar-Ramirez, P.; Reis, E. S.; Florido, M. P. C.; Barbosa, A. S.; Farah, C. S.; Costa-Carvalho, B. T. [UNIFESP]; Isaac, L.; Universidade de São Paulo (USP); Inst Butantan; Universidade Federal de São Paulo (UNIFESP)The deficiency of complement C5 is rare and frequently associated with severe and recurrent infections, especially caused by Neisseria spp. We observed the absence of component C5 in the serum of 3 siblings from a Brazilian family with history of consanguinity. the patients had suffered from recurrent episodes of meningitis and other less severe infections. Sera from these patients were unable to mediate hemolytic activity either by the classical or alternative pathways and presented extremely low levels of C5 protein (13, 0.9 and 1.0 mu g/ml-normal range: 45-190 mu g/ml). Hemolytic activity could be restored by the addition of purified C5 to deficient serum. Sequencing of sibling C5 cDNA revealed a homozygous 153 bp deletion that corresponds precisely to exon 30. the parents carried the same deletion but only in one allele. Sequencing of the corresponding region in the genomic DNA revealed a C to C substitution within intron 30 and, most significantly, the substitution of GAG(4028) for GAA(4028) at the 3' end of exon 30 which is most likely responsible for skipping of exon 30. the resulting in-frame deletion in the C5 mRNA codes for a mutant C5 protein lacking residues 1289-1339. These residues map to the CUB and C5d domains of the C5 alpha chain. This deletion is expected to produce a non-functional and unstable C5 protein which is more susceptible to degradation. (C) 2009 Published by Elsevier B.V.