Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin

The association of Down syndrome with mannose-binding lectin (MBL)-deficiency, recurrent infections and vasculitis has not been reponed. We repon a 30 year-old female with Down-syndrome associated with MBL-deficiency with the genotype LXA/HYD, IgG-deficiency, recurrent uro-genital infections, cutane...

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Autores principales:	Wolf,Hermann M, Stöllberger,Claudia, Finsterer,Josef
Lenguaje:	English
Publicado:	Sociedad Médica de Santiago 2009
Materias:	Down syndrome Severe combined immunodeficiency Prothrombin
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000100014
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spelling	oai:scielo:S0034-988720090001000142009-04-13Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombinWolf,Hermann MStöllberger,ClaudiaFinsterer,Josef Down syndrome Severe combined immunodeficiency Prothrombin The association of Down syndrome with mannose-binding lectin (MBL)-deficiency, recurrent infections and vasculitis has not been reponed. We repon 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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.137 n.1 20092009-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000100014en10.4067/S0034-98872009000100014
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	Down syndrome Severe combined immunodeficiency Prothrombin
spellingShingle	Down syndrome Severe combined immunodeficiency Prothrombin Wolf,Hermann M Stöllberger,Claudia Finsterer,Josef Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin
description	The association of Down syndrome with mannose-binding lectin (MBL)-deficiency, recurrent infections and vasculitis has not been reponed. We repon 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.
author	Wolf,Hermann M Stöllberger,Claudia Finsterer,Josef
author_facet	Wolf,Hermann M Stöllberger,Claudia Finsterer,Josef
author_sort	Wolf,Hermann M
title	Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin
title_short	Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin
title_full	Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin
title_fullStr	Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin
title_full_unstemmed	Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin
title_sort	down-syndrome associated with mbl-deficiency, igg-deficiency, vasculitis and mutated prothrombin
publisher	Sociedad Médica de Santiago
publishDate	2009
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000100014
work_keys_str_mv	AT wolfhermannm downsyndromeassociatedwithmbldeficiencyiggdeficiencyvasculitisandmutatedprothrombin AT stollbergerclaudia downsyndromeassociatedwithmbldeficiencyiggdeficiencyvasculitisandmutatedprothrombin AT finstererjosef downsyndromeassociatedwithmbldeficiencyiggdeficiencyvasculitisandmutatedprothrombin
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Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin

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