About: Pathophysiology and Natural Course of Primary Antibody Deficiency (PAD) Syndromes

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About: Pathophysiology and Natural Course of Primary Antibody Deficiency (PAD) Syndromes Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Projekt, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	http://linked.opendata.cz/ontology/domain/vavai/Projekt
rdfs:seeAlso	http://www.isvav.cz/projectDetail.do?rowId=7E08062
Description	The project will document and monitor the natural course and study the pathophysiology of Primary Antibody Deficiencies (PAD). PADs are rare inborn errors of the immune system with an estimated incidence of <1:25.000. The defective immunity in patients with PAD causes an increased susceptibility to recurrent infections of the respiratory- and gastro-intestinal tract as well as ill defined co-morbidity including granulomatous disease, lymphocytic organ infiltration and (paradoxically) autoimmunity. Our consortium cares for more than 1000 PAD patients, representing approx. 50% of the patients registered in Europe, many of them being children. We propose to: 1. Combine clinical and research data in a central online registry, complemented by a sample repository (WP1) 2. Elucidate the genetic cause of PADs by linkage analysis and candidate gene approaches (WP2) 3. Establish in vitro models for B cell differentiation steps that are defective in PADs such as in vitro class switch recombination, and si (en) The project will document and monitor the natural course and study the pathophysiology of Primary Antibody Deficiencies (PAD). PADs are rare inborn errors of the immune system with an estimated incidence of <1:25.000. The defective immunity in patients with PAD causes an increased susceptibility to recurrent infections of the respiratory- and gastro-intestinal tract as well as ill defined co-morbidity including granulomatous disease, lymphocytic organ infiltration and (paradoxically) autoimmunity. Our consortium cares for more than 1000 PAD patients, representing approx. 50% of the patients registered in Europe, many of them being children. We propose to: 1. Combine clinical and research data in a central online registry, complemented by a sample repository (WP1) 2. Elucidate the genetic cause of PADs by linkage analysis and candidate gene approaches (WP2) 3. Establish in vitro models for B cell differentiation steps that are defective in PADs such as in vitro class switch recombination, and si
Title	Pathophysiology and Natural Course of Primary Antibody Deficiency (PAD) Syndromes (en) Pathophysiology and Natural Course of Primary Antibody Deficiency (PAD) Syndromes
skos:notation	7E08062
http://linked.open...avai/cep/aktivita	Subvention of the projects of the Seventh Framework Programme of the European Community for research, technological development including demonstration activities (FP7) according to the Czech law 171/2007 Sb.
http://linked.open...kovaStatniPodpora	http://linked.opendata.cz/resource/domain/vavai/projekt/7E08062/celkovaStatniPodpora
http://linked.open...ep/celkoveNaklady	http://linked.opendata.cz/resource/domain/vavai/projekt/7E08062/celkoveNaklady
http://linked.open...datumDodatniDoRIV	2012-07-12 (xsd:date)
http://linked.open...i/cep/druhSouteze	RP - Spolufinancování programu ES
http://linked.open...ep/duvernostUdaju	C - Předmět podléhá obchodnímu tajemství (§17 až 20 Obchodního zákoníku), ale některé údaje jsou upraveny tak, aby byly zveřejnitelné
http://linked.open.../cep/fazeProjektu	91907918
http://linked.open...ai/cep/hlavniObor	EC - Imunologie
http://linked.open...hodnoceniProjektu	U - Uspěl podle zadání, tj. byly splněny cíle a jeho předpokládané výsledky uvedené ve smlouvě / rozhodnutí o poskytnutí podpory
http://linked.open...vai/cep/kategorie	ZV - Základní výzkum
http://linked.open.../cep/klicovaSlova	Immunodeficiency; antibody deficiency; genetic; database; clinical; immunoglobulin; mutation; candidate gene; class switch recombination; humanised mice; lentiviral vector (en)
http://linked.open...ep/partnetrHlavni	Lékařská fakulta
http://linked.open...inujicichPrijemcu	0 (xsd:int)
http://linked.open...cep/pocetPrijemcu	1 (xsd:int)
http://linked.open...ocetSpoluPrijemcu	0 (xsd:int)
http://linked.open.../pocetVysledkuRIV	13 (xsd:int)
http://linked.open...enychVysledkuVRIV	13 (xsd:int)
http://linked.open...lneniVMinulemRoce	2011-03-07 (xsd:date)
http://linked.open.../prideleniPodpory	http://linked.opendata.cz/resource/domain/vavai/cep/prideleniPodpory/3094%2F2010-32
http://linked.open...iciPoslednihoRoku	2011
http://linked.open...atUdajeProjZameru	2012
http://linked.open...usZobrazovaneFaze	DUU
http://linked.open...ai/cep/typPojektu	P - Projekt výzkumu a vývoje financovaný ze státního rozpočtu
http://linked.open...ep/ukonceniReseni	2011-04-30 (xsd:date)
http://linked.open.../cep/vedlejsiObor	EB - Genetika a molekulární biologie ED - Fyziologie
http://linked.open...ep/zahajeniReseni	2008-05-01 (xsd:date)
http://linked.open...jektu+dodavatelem	Following the condition that the candidate of financial contribution was evaluated and afterwards selected by international provider in accordance with the rules of the program the Ministry of Education, Youth ans Sports does not realize the evaluation of project results. The project is evaluated only after its approval by an international provider. (en) Hodnocení výsledků řešení ministerstvo neprovádí, neboť podmínkou podpory je, že uchazeč byl vybrán mezinárodním poskytovatelem v souladu s pravidly příslušného programu. Projekt je hodnocen až po jeho schválení mezinárodním poskytovatelem. (cs)
http://linked.open...tniCyklusProjektu	ZBBKU
http://linked.open...n/vavai/cep/vyzva	http://linked.opendata.cz/resource/domain/vavai/cep/vyzva/FP7-HEALTH-2007-A
http://linked.open.../cep/klicoveSlovo	Immunodeficiency database genetic mutation antibody deficiency candidate gene class switch recombination clinical humanised mice immunoglobulin
is http://linked.open...vavai/cep/projekt of	http://linked.opendata.cz/resource/domain/vavai/cep/ucast/7E08062/2008/orjk%3A14110 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/7E08062/2009/orjk%3A14110 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/7E08062/2010/orjk%3A14110 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/7E08062/2011/orjk%3A14110 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/7E08062/2012/orjk%3A14110

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