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Statements

Subject Item
n2:RIV%2F00159816%3A_____%2F06%3A%230000362%21RIV10-MZ0-00159816
rdf:type
skos:Concept n17:Vysledek
dcterms:description
HyperIgM syndrome is a heterogenous immunodeficiency characterized by impaired class-switch recombination due to different molecular abnormalities. We report on two female patients affected by a novel syndrome associating HIGM, growth and pubertal disturbances, and severe lymphoid hyperplasia with eventual development into lymphomas, suggesting a DNA repair defect. HyperIgM syndrome is a heterogenous immunodeficiency characterized by impaired class-switch recombination due to different molecular abnormalities. We report on two female patients affected by a novel syndrome associating HIGM, growth and pubertal disturbances, and severe lymphoid hyperplasia with eventual development into lymphomas, suggesting a DNA repair defect.
dcterms:title
A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development
skos:prefLabel
A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development
skos:notation
RIV/00159816:_____/06:#0000362!RIV10-MZ0-00159816
n3:aktivita
n10:S n10:P
n3:aktivity
P(NR7981), S
n3:cisloPeriodika
3
n3:dodaniDat
n12:2010
n3:domaciTvurceVysledku
n11:9731490
n3:druhVysledku
n7:J
n3:duvernostUdaju
n6:S
n3:entitaPredkladatele
n14:predkladatel
n3:idSjednocenehoVysledku
463729
n3:idVysledku
RIV/00159816:_____/06:#0000362
n3:jazykVysledku
n13:eng
n3:klicovaSlova
hyper-IgM, immunodeficiency, growth disturbance, lymphoma
n3:klicoveSlovo
n15:immunodeficiency n15:hyper-IgM n15:lymphoma n15:growth%20disturbance
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[1832AC474E2B]
n3:nazevZdroje
J Pediatr
n3:obor
n9:FG
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
11
n3:projekt
n8:NR7981
n3:rokUplatneniVysledku
n12:2006
n3:svazekPeriodika
148
n3:tvurceVysledku
Brousse, Nicolle Callea, Francesco Rossi, Paolo Moschese, Viviana Geissman, Frederic Durandy, Anne Carsetti, Rita Chini, Loredana Devito, Rita Litzman, Jiří DiCesare, Silvia
s:issn
0022-3476
s:numberOfPages
3