Navegando por Palavras-chave "Erros Inatos Da Imunidade"

Agora exibindo 1 - 2 de 2
  • Nenhuma Miniatura disponível
    Item
    Somente Metadadados
    Experiências 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 Paulo
    Introduction: 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.
  • Nenhuma Miniatura disponível
    Item
    Somente Metadadados
    Subpopulações de células B e T foliculares em pacientes com síndrome do PI3KCD ativado (APDS)
    (Universidade Federal de São Paulo (UNIFESP), 2021) Velasco, Helena Fleck [UNIFESP]; Pinto, Maria Isabel De Moraes [UNIFESP]; Universidade Federal de São Paulo
    Introduction: Inborn Immunity Errors are a heterogeneous group of genetic diseases that affect the functioning of the immune system. Activated PI3Kδ syndrome (Activated PI3K delta syndrome - APDS) is one of the new inborn erros of immunity described because of the evolution of molecular biology. APDS is caused by heterozygous gain-of-function mutations in genes encoding the enzyme complex phosphoinositide 3-kinase (PI3K). The main clinical manifestations are pulmonary infections, high susceptibility to virus infections, benign lymphoproliferation and predisposition to lymphoma. Patients with APDS have defects in humoral and cellular immunity and consequently do not respond adequately to vaccines. Objectives: To evaluate follicular B and T cell subpopulations in patients with APDS. To compare laboratory findings with the clinical manifestations of affected patients. To describe from a clinical and laboratory point of view a family with an unprecedented PI3K gain-of-function mutation. Methods: All twelve patients with APDS who were evaluated at the Allergy and Clinical Immunology clinic at UNIFESP were selected. Among these patients, seven belonged to a family that was also described separately for presenting a new genetic variant of APDS, p.529insHEK. Clinical data were collected from all patients and for laboratory evaluation, peripheral blood samples were collected the same patients and 12 controls matched by sex and age. Absolute counts of T, B and NK lymphocytes and percentage of B and follicular T lymphocytes subsets was performed by flow cytometry. Results: Most patients had recurrent respiratory tract infections, pneumonia and bronchiectasis. Some patients also had lymphoproliferation. Compared to controls, patients with APDS had significantly lower numbers of B cells, TCD3, TCD4, TCD8 and CD19. Lower numbers of B lymphocytes appear to be associated with a reduction in the number of memory B cells. Unlike the literature, the patients in the study did not show an increase in transitional B cells. The value of total follicular T cells diverged between the different variants, but all presented a reduced number of follicular T cells 17 (Tfh17). Patients with the new genetic variant of APDS, p.529insHEK presented varied clinical manifestations, however with a similar pattern in infections and in autoimmunity/lymphoproliferation, which confirms the importance of studies of families with rare diseases, especially for a better understanding of this group of disease. Conclusion: Patients with mutations in the PIK3CD gene have varied symptoms but with similar clinical features. The value of total follicular T cells diverged among the different genetic variants, but all presented a reduced number of follicular T cells 17 which may be related to defects in the production of antibodies found in APDS. Patients with the new genetic variant of APDS, p.529insHEK. presented varied clinical manifestations, however with a similar pattern in infections and in autoimmunity/lymphoproliferation, which confirms the importance of studies of families with rare diseases, especially for a better understanding of this group of disease.