Educational paper: Primary immunodeficiencies in children: a diagnostic challenge

Eur J Pediatr. 2011 Feb;170(2):169-77. doi: 10.1007/s00431-010-1358-5. Epub 2010 Dec 18.


Primary immunodeficiencies (PIDs) are characterized by an increased susceptibility to infections due to defects in one ore more components of the immune system. Although most PIDs are relatively rare, they are more frequent than generally acknowledged. Early diagnosis and treatment of PIDs save lives, prevent morbidity, and improve quality of life. This early diagnosis is the task of the pediatrician who encounters the child for the first time: he/she should suspect potential PID in time and perform the appropriate diagnostic tests. In this educational paper, the first in a series of five, we will describe the most common clinical presentations of PIDs and offer guidelines for the diagnostic process, as well as a brief overview of therapeutic possibilities and prognosis.

Publication types

  • Review

MeSH terms

  • Child
  • Early Diagnosis
  • Education, Medical / standards*
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / therapy
  • Pediatrics / education*
  • Practice Guidelines as Topic