Souto, Janeusa Trindade deAndrade, Ianca Queiroz2019-06-252021-10-062019-06-252021-10-062019-06-07ANDRADE, Ianca Queiroz. Imunodeficiências Primárias: Uma revisão sobre aquelas de maior prevalência na população. 2019. 77f. Trabalho de Conclusão de Curso (Graduação em Biomedicina) - Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, 2019.https://repositorio.ufrn.br/handle/123456789/43197Primary immunodeficiencies are diseases caused by failures in the individual's immune system. These failures may occur because of genetic problems that prevent the expression of crucial proteins for the cell’s development, receptors, and molecules involved in biochemical signaling pathways. Primary immunodeficiencies are diseases mainly underreported in developing countries such as Brazil and do not have notification system. Moreover, because they are diseases considered rare and not widespread, they do not raise suspicion in the medical community, often leading to death due to the lack of correct treatment. Epidemiological data from the French Center for the Study of Deficits (CEREDIH) shows a prevalence of 4.4 patients per 100,000 inhabitants. Data from the United States show a prevalence of 1 to 1,200 people, the highest prevalence worldwide. In Europe, 28,000 patients were identified in more than 125 medical centers. Data from the Latin American Society for Immunodeficiency (LASID) show that 7,506 patients were registered in April 2019 in the Latin American continent, with Brazil registering 1,528 patients on its database in the same period. From the primary immunodeficiencies, the most prevalent are antibody deficiencies, being the most common from IgA deficiency, followed by well-defined immunodeficiency syndromes, highlighting Ataxia-telangiectasia as the most prevalent. T cell deficiencies or combined ones, are the third most prevalent immunodeficiencies and are more commonly known as Severe Combined Immunodeficiency (SCIDs), and finally deficiencies in phagocytic cells, such as Chronic Granulomatous Disease, both with approximately the same prevalence. The selective deficiency of IgA, which is reported as the most frequent, may occurs in sporadically or familiar way, that is, with a hereditary gene, and have been already described as autosomal recessive and autosomal dominant inheritances. Ataxia-telangiectsia is an autosomal inherited immunodeficiency, caused by mutations in the ATM gene, a protein with a crucial role for regulating and surviving cells. T cell deficiencies or combined ones are complex diseases and have several mechanisms to be understood because a patient who has T cell deficiency will not perform the cell-mediated immune response and may also have altered the humoral response. The deficiencies in phagocytic cells can be caused by several factors, such as cell migration defects to the site of infection, or deficiency in the production of reactive oxygen species that kill the microorganisms within the phagolysosome. In this way, it is important to understand the mechanisms, clinical aspects and treatments for those diseases, since the patient's life depends on a fast and effective treatment.Attribution-NonCommercial-NoDerivs 3.0 Brazilhttp://creativecommons.org/licenses/by-nc-nd/3.0/br/Imunodeficiências primáriasrevisãoepidemiologiadiagnósticotratamentoImmunodeficienciesprimary immunodeficienciesreviewepidemiologydiagnosistreatmentbachelorThesis