About: ICOS deficiency in patients with common variable immunodeficiency

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Common variable immunodeficiency (CVID) is the most frequent clinically significant primary antibody deficiency in man, predisposing to recurrent bacterial infections. Recently, we showed that the homozygous loss of the inducible costimulator (ICOS) on activated T cells may result in an adult onset form of CVID with autosomal recessive inheritance (AR-CVID). We screened 181 sporadic CVID patients and 13 CVID patients from nine families with AR-CVID for mutations in ICOS by genomic DNA sequencing. In the AR-CVID families, the genomic integrity of the ligand for ICOS (ICOS-L) was also evaluated. In two of the nine AR-CVID families, we identified five individuals with ICOS deficiency, carrying the identical large genomic deletion of ICOS as previously described. In the remaining seven AR-CVID families, we subsequently sequenced the coding region of the ICOS ligand but found no mutations. The incidence of ICOS deficiency among patients with CVID is less than 5%. Common variable immunodeficiency (CVID) is the most frequent clinically significant primary antibody deficiency in man, predisposing to recurrent bacterial infections. Recently, we showed that the homozygous loss of the inducible costimulator (ICOS) on activated T cells may result in an adult onset form of CVID with autosomal recessive inheritance (AR-CVID). We screened 181 sporadic CVID patients and 13 CVID patients from nine families with AR-CVID for mutations in ICOS by genomic DNA sequencing. In the AR-CVID families, the genomic integrity of the ligand for ICOS (ICOS-L) was also evaluated. In two of the nine AR-CVID families, we identified five individuals with ICOS deficiency, carrying the identical large genomic deletion of ICOS as previously described. In the remaining seven AR-CVID families, we subsequently sequenced the coding region of the ICOS ligand but found no mutations. The incidence of ICOS deficiency among patients with CVID is less than 5%. (en)
Title	ICOS deficiency in patients with common variable immunodeficiency ICOS deficiency in patients with common variable immunodeficiency (en)
skos:prefLabel	ICOS deficiency in patients with common variable immunodeficiency ICOS deficiency in patients with common variable immunodeficiency (en)
skos:notation	RIV/00216224:14110/04:00030933!RIV10-MSM-14110___
http://linked.open...avai/riv/aktivita	S
http://linked.open...avai/riv/aktivity	S
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Litzman, Jiří
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Lékařská fakulta
http://linked.open...dnocenehoVysledku	567105
http://linked.open...ai/riv/idVysledku	RIV/00216224:14110/04:00030933
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	CVID; ICOS; Immunodeficiency (en)
http://linked.open.../riv/klicoveSlovo	ICOS CVID Immunodeficiency
http://linked.open...odStatuVydavatele	SE - Švédské království
http://linked.open...ontrolniKodProRIV	[F09E86180CDE]
http://linked.open...i/riv/nazevZdroje	Clin Immunol
http://linked.open...in/vavai/riv/obor	EC
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	13 (xsd:int)
http://linked.open...UplatneniVysledku	2004
http://linked.open...v/svazekPeriodika	113
http://linked.open...iv/tvurceVysledku	Litzman, Jiří Grimbacher, Bodo Plebani, Alessandro Belohradsky, Berd Cunninghma-Rundles, Charlotte Franco, José Luis Hammarstrom, Lennart Holm, Are Maul-Pavicic, Andrea Salzer, Ulrich Schwinger, Wolfgang Skrabl, Andrea Urschel, Simon
http://linked.open...ain/vavai/riv/wos	000224975700004
issn	1521-6616
number of pages	8 (xsd:int)
http://localhost/t...ganizacniJednotka	14110

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