Guía para el diagnóstico de las Inmunodeficiencias Primarias en el Laboratorio Clínico

The primary immunodeficiency diseases (PID) are a heterogeneous group of hereditary disorders thataffect the host’s non specific and specific immune mechanisms. In the majority of cases, the symptomsappear within the first five years of life but they can also appear at any age, and are found to be verypredominant in males (Oleasto, 2001). The PID’s have been classified according to the molecular defectthat is present, as X-Chromosome Linked Immune Deficiencies and Autosomic Recessive ImmuneDeficiencies (Jones, 2000). Their prevalence has been established as 1 in every 10.000 live births,increasing considerably since the first reported case in 1969 (Lim, 2004). This increase could have beenhelped by the new specialized laboratory tests that make the early detection of immunological abnormalitiespossible. The immunocompetence evaluation of an individual, who is suspected of having a PID, requiresa quantitative, qualitative or structural analysis and studies of immune function in order to determine theintegrity of the defense mechanisms. Depending on the components of the immune system that need to beevaluated, there are different tests that can be performed; these tests have been classified according to theirdegree of complexity, as: first, second and third stage tests, which will be reviewed in this article.(Montoya, 2004; Ortega, 2005).