Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach
Background: Primary immunodeficiencies (PIDs) are rare genetic disorders leading to immunologic abnormalities that can affect different organs and systems. We determined the epidemiology, clinical, and geospatial characteristics of PID disorders among patients diagnosed over a 5 year period in a ref...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-05-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fimmu.2020.00862/full |
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| author | Denise Helena Boton Pereira Lívia Souza Primo Giovana Pelizari Edilson Flores Dewton de Moraes-Vasconcelos Antonio Condino-Neto Luiz Euribel Prestes-Carneiro Luiz Euribel Prestes-Carneiro |
| author_facet | Denise Helena Boton Pereira Lívia Souza Primo Giovana Pelizari Edilson Flores Dewton de Moraes-Vasconcelos Antonio Condino-Neto Luiz Euribel Prestes-Carneiro Luiz Euribel Prestes-Carneiro |
| author_sort | Denise Helena Boton Pereira |
| collection | DOAJ |
| description | Background: Primary immunodeficiencies (PIDs) are rare genetic disorders leading to immunologic abnormalities that can affect different organs and systems. We determined the epidemiology, clinical, and geospatial characteristics of PID disorders among patients diagnosed over a 5 year period in a reference hospital covering a mesoregion in São Paulo, Brazil.Methods: A retrospective analysis of 39 patients with recognizable PIDs according to the criteria of the European Society of Primary Immunodeficiencies were enrolled. Thirty-four patients came from outpatient immunodeficiency clinics and five patients from active search. Demographic, clinical, and immunologic data were collected, and maps were constructed using a geographic information system.Results: The ratio of females to males was 1.4:1, and 48.7% of patients were younger than 17 years of age. The mean age at the onset of symptoms in children was 2.0 years [standard error of the mean (SEM), 1.7 years] and the diagnosis lag was 5.1 years (SEM, 3.1 years); the mean age at diagnosis in adults was 16.3 years (SEM, 11.8 years) and the lag was 10.8 years (SEM, 10.9 years). Antibody deficiency and common variable immunodeficiencies were the most common categories and phenotypes, respectively. The need for intravenous antibiotics and respiratory tract infections were the most prevalent warning signs, with an overall mortality rate of 15.3%. Autoimmune diseases were diagnosed in 56.4% and visceral leishmaniasis in 5.1% of patients. In the active search, 29 patients were investigated and 17.2% were diagnosed; early diagnosis, the involvement of multidisciplinary professionals, and dissemination of knowledge achieved milestone benefits. The distribution of PID networks in Brazil shows great asymmetry between regions and at a regional level; it was shown that the patients lived mainly in Presidente Prudente municipality.Conclusions: The implementation of an immunodeficiency outpatient clinic in a referral hospital covering a mesoregion with a large population has led to the generation of policies and practices to improve the diagnosis, quality of life, and care of patients with PIDs and their families. Furthermore, the search for hospitalized patients with warning signs for PIDs showed great benefits. Inequality in the distribution of PID network centers in Brazil was demonstrated. |
| first_indexed | 2024-12-20T15:33:08Z |
| format | Article |
| id | doaj.art-449cd76124cb48b9bb0f936059d9c837 |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-12-20T15:33:08Z |
| publishDate | 2020-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-449cd76124cb48b9bb0f936059d9c8372022-12-21T19:35:33ZengFrontiers Media S.A.Frontiers in Immunology1664-32242020-05-011110.3389/fimmu.2020.00862528238Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial ApproachDenise Helena Boton Pereira0Lívia Souza Primo1Giovana Pelizari2Edilson Flores3Dewton de Moraes-Vasconcelos4Antonio Condino-Neto5Luiz Euribel Prestes-Carneiro6Luiz Euribel Prestes-Carneiro7Imunnodeficiencies Outpatient Clinic, Regional Hospital of Presidente Prudente, Presidente Prudente, BrazilImunnodeficiencies Outpatient Clinic, Regional Hospital of Presidente Prudente, Presidente Prudente, BrazilDepartment of Pediatrics, Oeste Paulista University, Presidente Prudente, BrazilDepartment of Statistics, Paulista State University, Presidente Prudente, BrazilLaboratory of Medical Investigation Unit 56, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, BrazilDepartment of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, BrazilImunnodeficiencies Outpatient Clinic, Regional Hospital of Presidente Prudente, Presidente Prudente, BrazilDepartment of Internal Medicine, Oeste Paulista University, Presidente Prudente, BrazilBackground: Primary immunodeficiencies (PIDs) are rare genetic disorders leading to immunologic abnormalities that can affect different organs and systems. We determined the epidemiology, clinical, and geospatial characteristics of PID disorders among patients diagnosed over a 5 year period in a reference hospital covering a mesoregion in São Paulo, Brazil.Methods: A retrospective analysis of 39 patients with recognizable PIDs according to the criteria of the European Society of Primary Immunodeficiencies were enrolled. Thirty-four patients came from outpatient immunodeficiency clinics and five patients from active search. Demographic, clinical, and immunologic data were collected, and maps were constructed using a geographic information system.Results: The ratio of females to males was 1.4:1, and 48.7% of patients were younger than 17 years of age. The mean age at the onset of symptoms in children was 2.0 years [standard error of the mean (SEM), 1.7 years] and the diagnosis lag was 5.1 years (SEM, 3.1 years); the mean age at diagnosis in adults was 16.3 years (SEM, 11.8 years) and the lag was 10.8 years (SEM, 10.9 years). Antibody deficiency and common variable immunodeficiencies were the most common categories and phenotypes, respectively. The need for intravenous antibiotics and respiratory tract infections were the most prevalent warning signs, with an overall mortality rate of 15.3%. Autoimmune diseases were diagnosed in 56.4% and visceral leishmaniasis in 5.1% of patients. In the active search, 29 patients were investigated and 17.2% were diagnosed; early diagnosis, the involvement of multidisciplinary professionals, and dissemination of knowledge achieved milestone benefits. The distribution of PID networks in Brazil shows great asymmetry between regions and at a regional level; it was shown that the patients lived mainly in Presidente Prudente municipality.Conclusions: The implementation of an immunodeficiency outpatient clinic in a referral hospital covering a mesoregion with a large population has led to the generation of policies and practices to improve the diagnosis, quality of life, and care of patients with PIDs and their families. Furthermore, the search for hospitalized patients with warning signs for PIDs showed great benefits. Inequality in the distribution of PID network centers in Brazil was demonstrated.https://www.frontiersin.org/article/10.3389/fimmu.2020.00862/fullprimary immunodeficienciesactive searchantibody deficiencyautoimmune diseasesmesoregionepidemiology |
| spellingShingle | Denise Helena Boton Pereira Lívia Souza Primo Giovana Pelizari Edilson Flores Dewton de Moraes-Vasconcelos Antonio Condino-Neto Luiz Euribel Prestes-Carneiro Luiz Euribel Prestes-Carneiro Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach Frontiers in Immunology primary immunodeficiencies active search antibody deficiency autoimmune diseases mesoregion epidemiology |
| title | Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach |
| title_full | Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach |
| title_fullStr | Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach |
| title_full_unstemmed | Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach |
| title_short | Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach |
| title_sort | primary immunodeficiencies in a mesoregion of sao paulo brazil epidemiologic clinical and geospatial approach |
| topic | primary immunodeficiencies active search antibody deficiency autoimmune diseases mesoregion epidemiology |
| url | https://www.frontiersin.org/article/10.3389/fimmu.2020.00862/full |
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