Inborn Errors
Mostrando 1-12 de 83 artigos, teses e dissertações.
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1. One-year intravenous immunoglobulin replacement therapy: efficacy in reducing hospital admissions in pediatric patients with Inborn Errors of Immunity
Abstract Objectives: To compare the frequency of hospitalization in children with Inborn Errors of Immunity with antibody deficiency previous to intravenous immunoglobulin (pre- IVIG) with a one-year period after initial IVIG (post-IVIG). Methods: Medical reports of 45 patients during an eight-year period were reviewed from 2018 to 2019. Wilcoxon-test was
Jornal de Pediatria. Publicado em: 2022
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2. Development and application of a test mixture for untargeted liquid chromatography-mass spectrometry analysis of urine samples
Metabolic profiling of complex biological matrices based on liquid chromatography-mass spectrometry (LC-MS) allows detecting a wide range of metabolites with distinct concentrations and physicochemical properties. Given the complexity of samples and the necessity of a comprehensive approach in untargeted metabolomics, quality control strategies are mandatory
Química Nova. Publicado em: 2022
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3. Failure of immunological competence: when to suspect?
Abstract Objectives: To draw physicians' attention to the different warning signs of diseases of inborn errors of immunity. Data sources: A non-systematic review of the literature was carried out in the PubMed, LILACS, and SciELO databases, in addition to consultation of reference textbooks. Summary of the findings: It is known that the lack of immunologi
J. Pediatr. (Rio J.). Publicado em: 2021-04
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4. Inborn Errors of Immunity: how to diagnose them?
Abstract Objectives: Inborn Errors of Immunity are characterized by infectious conditions and manifestations of immune dysregulation. The diversity of clinical phenotypes can make it difficult to direct the laboratory investigation. This article aims to update the investigation of immunological competence in the context of primary defects of the immune syst
J. Pediatr. (Rio J.). Publicado em: 2021-04
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5. Inborn errors of immunity associated with characteristic phenotypes
Abstract Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. Data source: The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, case reports and a randomized study published in the las
J. Pediatr. (Rio J.). Publicado em: 2021-04
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6. Immunodeficiencies: non-infectious manifestations
Abstract Objectives: Classical immunodeficiencies are mainly characterized by infectious conditions. In recent years, manifestations related to allergy, inflammation, autoimmunity, lymphoproliferation, and malignancies related to this group of diseases have been described. The text intends to make an update on the non-infectious manifestations of the primar
J. Pediatr. (Rio J.). Publicado em: 2021-04
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7. Immunological deficiencies: more frequent than they seem to be
Abstract Objective: A review article was carried out, addressing the clinical and epidemiological characteristics of immune system deficiencies, which are associated with or predispose to recurrent infectious processes, autoimmune diseases, auto inflammatory diseases, or neoplasms, and which are classified as inborn errors of immunity (IEI) and secondary im
J. Pediatr. (Rio J.). Publicado em: 2021-04
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8. Primary immunodeficiencies: a diagnostic challenge?
Abstract Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. Data source: The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, case reports and a randomized study published in the las
J. Pediatr. (Rio J.). Publicado em: 2021-04
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9. Treatment of patients with immunodeficiency: Medication, gene therapy, and transplantation
Abstract Objectives: To provide an overview of drug treatment, transplantation, and gene therapy for patients with primary immunodeficiencies. Source of data: Non-systematic review of the literature in the English language carried out at PubMed. Synthesis of data: The treatment of patients with primary immunodeficiencies aims to control their disease, esp
J. Pediatr. (Rio J.). Publicado em: 2021-04
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10. Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it
Abstract Objective: This minireview gathers the scientific foundations of the literature on genetic errors in the development of the humoral immune system to help pediatricians suspect these defects. Sources: A systemic search using the PubMed MEDLINE database was performed for all Predominantly Antibody Deficiencies (PADs) described in the 2020 IUIS Exper
J. Pediatr. (Rio J.). Publicado em: 2021-04
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11. Combined immunodeficiencies
Abstract Objectives: Inborn Errors of Immunity (IEI), also known as primary immunodeficiencies, correspond to a heterogeneous group of congenital diseases that primarily affect immune response components. The main clinical manifestations comprise increased susceptibility to infections, autoimmunity, inflammation, allergies and malignancies. The aim of this
J. Pediatr. (Rio J.). Publicado em: 2021-04
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12. Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?
Abstract Genetic homocystinurias are a group of inborn errors of metabolism that result in the massive excretion of homocysteine (Hcy) in the urine due to Hcy accumulation in the body, usually causing neurological and cardiovascular complications. The three most frequent causes are classical homocystinuria [deficiency of cystathionine beta-synthase (CBS)], m
J. inborn errors metab. screen.. Publicado em: 05/12/2019