Errors of morphogenesis and inborn errors of immunity 20 years after the discovery of DiGeorge anomaly

G. R. Burgio, A. G. Ugazio

Research output: Contribution to journalArticlepeer-review


The heuristic concept of "inborn errors of metabolism" was introduced more then 70 years ago and by analogy has prompted the more recent introduction of the term "inborn errors of immunity". It is now well recognized that many inborn errors of immunity can be considered inborn errors of metabolism. Typically, many forms of severe combined immunodeficiency result from adenosine deaminase deficiency, i.e., an inborn error of purine metabolism. On the other hand, errors of immunity are often associated with "errors of morphogenesis", resulting from an intrinsically abnormal developmental process (malformation), a secondary or extrinsic interference with originally normal development (disruption), or an abnormal organization of cells into tissues (dysplasia). Twenty years after the original description, the DiGeorge anomaly should be considered an inborn error of morphogenesis and immunity due either to disruption or less frequently to malformation. In other immunodeficiencies, such as ataxia telangiectasia, the morphologic and immunologic errors result from a dyshistogenesis, i.e, dysplasia. Also, true malformation syndromes, such as Down's syndrome, are consistently associated with immunodeficiency.

Original languageEnglish
Pages (from-to)9-12
Number of pages4
JournalEuropean Journal of Pediatrics
Issue number1
Publication statusPublished - May 1985


  • DiGeorge anomaly
  • Errors of morphogenesis
  • Immunodeficiency
  • Malformation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Errors of morphogenesis and inborn errors of immunity 20 years after the discovery of DiGeorge anomaly'. Together they form a unique fingerprint.

Cite this