Neonatology pp 1607-1618 | Cite as

Congenital Immunodeficiencies in Newborns

  • Alessandro PlebaniEmail author
  • Gaetano Chirico
  • Vassilios Lougaris
Reference work entry


Congenital immunodeficiency diseases are a group of primarily single-gene disorders of the immune system. To date, more than 300 genetic defects have been identified as responsible for congenital immunodeficiencies. Although diverse, these diseases share the common features of susceptibility to infections and result in substantial morbility and shortened life spans. The severity of congenital immunodeficiencies largely depends on the arm of the immune system affected, and being congenital many of these disorders have their clinical symptoms early in infancy. In syndromic immunodeficiencies, the defects of the immune system may not represent the major clinical problem. Most important, prompt diagnosis and treatment can lead in marked improvement in the quality and length of life and better outcome. The possibility to apply the neonatal screening test for severe combined immunodeficiency will further ameliorate patients’ outcome.


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Alessandro Plebani
    • 1
    Email author
  • Gaetano Chirico
    • 2
  • Vassilios Lougaris
    • 1
  1. 1.Pediatrics Clinic, Department of Clinical and Experimental SciencesUniversity of Brescia and Spedali Civili of BresciaBresciaItaly
  2. 2.Neonatology and Intensive Neonatal Therapy UnitSpedali Civili of BresciaBresciaItaly

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