title: Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes.
abstract: 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.
authors.affiliation: Department of Infectious and Pediatric Immunology, University of Debrecen Medical and Health Science Center, Debrecen, Hungary. lmarodi@dote.hu
authors.forename: L
authors.initials: L
authors.lastname: Maródi
authors.forename: J L
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D000328:Adult; D003424:Crohn Disease / Q000235:genetics* / Q000276:immunology; D057210:Delayed Diagnosis; D020022:Genetic Predisposition to Disease; D005838:Genotype; D016178:Granulocyte-Macrophage Colony-Stimulating Factor / Q000172:deficiency*; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics* / Q000276:immunology; D010641:Phenotype; D011649:Pulmonary Alveolar Proteinosis / Q000235:genetics* / Q000276:immunology
chemical_list: D016178:Granulocyte-Macrophage Colony-Stimulating Factor