Clinical Management and Diagnosis for Patients with Primary Immunodeficiency Diseases Due to Antibody Deficiency

Abstract

Primary Immunodeficiencies (PID) are a group of more than 400 diseases, in which the immune system loses its pathogen recognition functions or functions inappropriately. Some of them are relatively common, while others are rare. These diseases are sometimes lifelong, debilitating, and costly^1,2.

However, much progress has been made since its original description in 1952. Great strides have been made in understanding PIDs at the genetic level, their characteristics, and their treatment. Some types affect only one type of cell; others affect more than one component of the immune system^2,3

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Considering that the approximation is between 1 to 2% of the population, at the country level we could say that approximately between 170,000 to 340,000 patients in the country do not have a diagnosis and many die due to lack of it. The number of social security affiliates until July 2021 is 3,672,611, so we could consider that approximately 36,726 to 73,452 patients could present this type of disease and require care for recurrent infections, autoimmune disease, and lymphoproliferative diseases, in addition to the fact that without specific treatment they could die due to serious infections or have a permanent disability, which implies a greater burden for the social security system in subsidies and lower-income. Currently, the country has 86 diagnosed patients, according to the database of the Latin American Society of Immunodeficiencies LASID⁴.

Many of the therapies, such as immunoglobulin replacement therapy, to which more than 60% of these pathologies are dependent, allow life expectancy and morbidity to almost reach those who do not have the disease^5–7.