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Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes
Author(s) -
Maródi L.,
Casanova J. L.
Publication year - 2009
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/j.1365-2796.2009.02166.x
Subject(s) - medicine , disease , immunity , primary immunodeficiency , immunology , pediatrics , immunologic deficiency syndromes , complement deficiency , common variable immunodeficiency , intensive care medicine , immune system , pathology , antibody , complement system
. 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.