Novel primary immunodeficiencies relevant to internal medicine: Novel phenotypes

L. Maródi, J. L. Casanova

Research output: Contribution to journalShort survey

13 Citations (Scopus)


Maródi L, Casanova JL (University of Debrecen Medical and Health Science Center, Debrecen, Hungary; Paris Descartes University, Paris, France; and The Rockefeller University, New York, NY, USA). Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes. J Intern Med 2009; 266: 502-506. Primary immunodeficiencies (PIDs) are often recognized in adults, either because of delayed diagnosis of a paediatric illness, or increasingly because of the recognition of adult onset forms of these diseases. Moreover, a growing fraction of children diagnosed with PIDs reach adulthood. It has become clear that many of these conditions affect various organs and therefore will be referred to professionals from various fields of internal medicine. It is well known that infectious diseases, allergy, auto-immunity and cancer may result from PIDs. Surprisingly, other clinical manifestations were recently found to reflect inborn errors of immunity. Ground-breaking discoveries suggest that atypical haemolytic uraemic syndrome, Crohn's disease, and alveolar proteinosis may actually be manifestations of novel PIDs.

Original languageEnglish
Pages (from-to)502-506
Number of pages5
JournalJournal of Internal Medicine
Issue number6
Publication statusPublished - Dec 1 2009


  • Novel immunodeficiency phenotypes
  • Primary immunodeficiencies

ASJC Scopus subject areas

  • Internal Medicine

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