Abstract

Primary immunodeficiencies are a wide range of more than 180 diseases caused by genetic defects in one or more components of the immune system. These diseases present highly variable clinical aspects, including patients with severe genetic defects that are incompatible with normal life. Therefore, a timely diagnosis contributes to improve the quality of life of patients, as well as reduces the risk of complications and death. Thus, it is essential that the physician in primary approach is able to perform a suspicion consistently to allow the initiation of the investigation. This paper discusses the key features of primary immunodeficiencies as well as the determinants of clinical suspicion and early diagnosis. A review of the literature published over the last ten years was carried out in the last ten years in the databases of Scielo, LILACS, Google Scholar, PubMED in addition to book chapters and the Professional Society sites: SBP (Brazilian Society of Pediatrics) and support Organization: BRAGID (Brazilian Group for Immunodeficiencies).

Keywords

primary immunodeficiency, clinical signs, diagnosis, review