| Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin. | |
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MedLine Citation:
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PMID: 19399328 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The association of Down syndrome with mannose-binding lectin (MBL)-deficiency, recurrent infections and vasculitis has not been reported. We report a 30 year-old female with Down-syndrome associated with MBL-deficiency with the genotype LXA/HYD, IgG-deficiency, recurrent uro-genital infections, cutaneous vasculitis, G20.210A prothrombin mutation, deep venous thrombosis, and pulmonary embolism. MBL-deficiency in combination with IgG deficiency might have favored the development of recurrent uro-genital infections. Immunodeficiency might be also involved in the pathogenesis of cutaneous vasculitis. Deep venous thrombosis and pulmonary embolism were attributed to the genetically determined prothrombotic state and intake of oral contraceptives. |
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Authors:
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Hermann M Wolf; Claudia Stöllberger; Josef Finsterer |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-04-23 |
Journal Detail:
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Title: Revista médica de Chile Volume: 137 ISSN: 0034-9887 ISO Abbreviation: Rev Med Chil Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2009-04-28 Completed Date: 2009-11-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0404312 Medline TA: Rev Med Chil Country: Chile |
Other Details:
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Languages: eng Pagination: 94-7 Citation Subset: IM |
Affiliation:
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Institute of Immunology, University of Vienna, Vienna, Austria. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Down Syndrome / complications* Female Humans IgG Deficiency* Mannose-Binding Lectin / deficiency* Prothrombin / genetics* Vasculitis / etiology* |
| Chemical | |
Reg. No./Substance:
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0/Mannose-Binding Lectin; 9001-26-7/Prothrombin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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