Classification and active search of patients with primary immunodeficiency in a reference Public Hospital of São Paulo state's western region

Abstract

Primary immunodeficiencies (PIDs) are a group of rare genetically heterogeneous diseases that affect different components of the innate and adaptive immune system. In Brazil, PID countrywide prevalence is not known. Due to the impaired immune response, the patient presents increased susceptibility to infections, cancer, autoimmunity and immune deregulation. More than 180 different PIDs have been described worldwide, however, the disease is misdiagnosed, particularly in developing countries. There are several obstacles for early diagnosis, such as lack of knowledge of doctors in identifying the alarming signs of PIDs, lack of reference centers for diagnosis and treatment and scarcity of technological resources. As a consequence, many people has not been identified nor treated. Our objective is to prospectively classify the patients followed and those referenced to an Infectious/Primary Immunodeficiencies ambulatory to both determine their infections profile and perform an active search of those suspected of PIDs in a regional tertiary public university hospital. Patients needing a genetic diagnosis will be referenced to our supporting service: Laboratório de Investigação Médica Unidade 56 (LIM-56), and Ambulatório de Manifestações Dermatológicas das Imunodeficiências do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP).