Publications by authors named "Ekaterini Simoes Goudouris"

Article Synopsis
  • The "V Brazilian Consensus on Rhinitis" is a significant update aimed at improving the understanding and management of rhinitis, focusing on evidence-based practices.
  • * It includes detailed information on rhinitis phenotypes, diagnostic criteria, treatment customization based on symptoms and comorbidities, and the importance of thorough clinical evaluation.
  • * The guideline also emphasizes patient education and addresses specific populations such as children, pregnant women, and the elderly to enhance overall quality of life for those affected by rhinitis.
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The use of allergen immunotherapy (AIT) in Brazil has specific regional conditions owing to the pattern of allergen sensitization, as well as to genetic, socioeconomic, and cultural characteristics. This review article aims to discuss the clinical practice of AIT by the subcutaneous or sublingual route in Brazil, addressing the possibilities of transition between these forms of administration. A systematic review using the PubMed and Cochrane databases was performed, and the websites of major allergy and immunology organizations were consulted.

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Introduction: Atopic dermatitis (AD) is a chronic and relapsing inflammatory skin disease mainly affecting children. Similarly, Allergic contact dermatitis (ACD) is an inflammatory skin disease, but unlike AD it results from direct exposure to an external agent. Theoretically, the impaired skin barrier facilitates the penetration of potential allergens.

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Background: Atopic dermatitis (AD) patients have high rates of colonization by Staphylococcus aureus, which has been associated with worsening of the disease. This study characterized Staphylococcus spp isolates recovered from nares and feces of pediatric patients with AD in relation to antimicrobial susceptibility, staphylococcal cassette chromosome mec (SCCmec) type, presence of pvl genes and clonality. Besides, gut bacterial community profiles were compared with those of children without AD.

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Article Synopsis
  • Inherited genetic defects in immune system-related genes can lead to Inborn Errors of Immunity (IEI), which are challenging to diagnose due to overlapping symptoms, making accurate identification of genetic variants essential for effective treatment and counseling.
  • This study conducted genetic screening on 13 patients from Brazil's public health system to find associations between genetic variants and patient characteristics, using whole exome sequencing (WES) and a computational framework for analysis.
  • The results identified 16 disease-causing variants across nine genes in six different IEI categories, with X-Linked Agammaglobulinemia as the most common disorder in the group.
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Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants from whole-exome sequencing (WES) data comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders.

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Background: Atopic dermatitis (AD) primarily affects the pediatric population, which is highly colonized by S. aureus. However, little is known about the genetic features of this microorganism and other staphylococcal species that colonize AD patients.

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Background: X-linked agammaglobulinemia (XLA) is an Inborn Errors of Immunity (IEI) characterized by pan-hypogammaglobulinemia and low numbers of B lymphocytes due to mutations in BTK gene. Usually, XLA patients are not susceptible to respiratory tract infections by viruses and do not present interstitial lung disease (ILD) such as bronchiolitis obliterans (BO) as a consequence of acute or chronic bacterial infections of the respiratory tract. Although many pathogenic variants have already been described in XLA, the heterogeneous clinical presentations in affected patients suggest a more complex genetic landscape underlying this disorder.

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Article Synopsis
  • Acquired deficiency of C1 inhibitor (AAE-C1-INH) is a rare cause of recurrent angioedema, with this study focusing on cases from Brazilian reference centers to better understand its characteristics.
  • A total of 14 patients were analyzed, mostly female, with an average symptom onset age of 56.5 years, and a median diagnostic delay of 2 years; the primary symptoms were skin-related.
  • Most patients had abnormal levels of C4 and C1-INH, and many needed long-term treatment; ultimately, 85.7% found resolution of their angioedema issues with appropriate therapy.
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The Phadiatop Infant (PhInf) is a panel developed to assess allergic sensitization (immunoglobulin E [IgE]) in children aged <5 years and combines inhalant and food allergens. The test has not been evaluated outside Europe. This is a cross-sectional study conducted at 11 pediatric allergy centers to evaluate PhInf as an allergic disease screening method in Brazilian children.

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Article Synopsis
  • - This study aimed to investigate the effects of SARS-CoV-2 infection on Brazilian patients with Inborn Errors of Immunity (IEI), focusing on their clinical outcomes and factors influencing the infection.
  • - In a multicenter study of 121 patients, the majority experienced mild or asymptomatic cases, with serious outcomes primarily linked to older age and specific comorbidities (like bronchiectasis and cardiopathy) rather than the type of IEI itself.
  • - Despite most infections being mild, the case fatality rate for these patients was higher than the general population, highlighting the need for targeted care in individuals with IEI.
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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 system.

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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 primary defects of the immune system.

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Objectives: This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the identification of the different causes of growth disorders in patients with inborn errors of immunity, which can help in their treatment.

Data Sources: Non-systematic review of the literature, searching articles since 2000 in PubMed with the terms "growth", "growth disorders", "failure to thrive", or "short stature" AND "immunologic deficiency syndromes", "immune deficiency disease", or "immune deficiency" NOT HIV. The Online Mendelian Inheritance in Man (OMIN) database was searched for immunodeficiencies and short stature or failure to thrive.

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In the last few years, new primary immunodeficiencies and genetic defects have been described. Recently, immunoglobulin products with improved compositions and for subcutaneous use have become available in Brazil. In order to guide physicians on the use of human immunoglobulin to treat primary immunodeficiencies, based on a narrative literature review and their professional experience, the members of the Primary Immunodeficiency Group of the Brazilian Society of Allergy and Immunology prepared an updated document of the 1st Brazilian Consensus, published in 2010.

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