Evaluation of the child with suspected primary immunodeficiency

Infections are one of the major causes for visits to paediatricians. Most children recover without sequelae, untreated or if treated properly, and develop specific immunity towards the challenging microorganisms (mostly viruses). There is a small proportion of children however, with unusual frequent, severe, chronic, recurrent or opportunistic infections in whom an underlying immunodeficiency must be suspected. Based on current knowledge about the major types of congenital immunodeficiencies this review suggests a diagnostic approach to these children. Early evaluation will allow early identification of affected children and, subsequently, lead to proper treatment before devastating infections cause irreversible organ damage.