| Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes. | |
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MedLine Citation:
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PMID: 19930097 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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L Mar??di; J L Casanova |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of internal medicine Volume: 266 ISSN: 1365-2796 ISO Abbreviation: J. Intern. Med. Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2009-11-25 Completed Date: 2010-01-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8904841 Medline TA: J Intern Med Country: England |
Other Details:
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Languages: eng Pagination: 502-6 Citation Subset: IM |
Affiliation:
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Department of Infectious and Pediatric Immunology, University of Debrecen Medical and Health Science Center, Debrecen, Hungary. lmarodi@dote.hu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Crohn Disease / genetics*, immunology Delayed Diagnosis Genetic Predisposition to Disease Genotype Granulocyte-Macrophage Colony-Stimulating Factor / deficiency* Hemolytic-Uremic Syndrome / genetics*, immunology Humans Immunologic Deficiency Syndromes / complications, genetics*, immunology Phenotype Pulmonary Alveolar Proteinosis / genetics*, immunology |
| Chemical | |
Reg. No./Substance:
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83869-56-1/Granulocyte-Macrophage Colony-Stimulating Factor |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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