Inmunodeficiencias primarias

Abstract

ConceptPrimary immunodeficiencies (PID) are very heterogeneous hereditary diseases, caused mostly by defects in a gene that determine a quantitative and/or qualitative alteration of the immune system and consequently, increased risk of infections by germs encapsulated or opportunistic, autoimmune phenomena or allergy and an increased risk of malignancies. ClassificationThe new classification of PIDs includes 9 groups, based on the phenotype of more than 200 entities. This review will focus on those that affect lymphocytes: antibodies deficiencies and combined immunodeficiencies. DiagnosisThe diagnosis of PIDs should be guided by clinical suspicion, should be performed sequentially and should be based on three simple additional test: blood count, determination of immunoglobulins and study of lymphocyte populations. Finally, the genetic characterization confirms the diagnosis of PID, allows suitable and early treatment and perform genetic counseling.