About: A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development     Goto   Sponge   NotDistinct   Permalink

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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. (en)
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 (en)
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 (en)
skos:notation
  • RIV/00159816:_____/06:#0000362!RIV10-MZ0-00159816
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NR7981), S
http://linked.open...iv/cisloPeriodika
  • 3
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 463729
http://linked.open...ai/riv/idVysledku
  • RIV/00159816:_____/06:#0000362
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • hyper-IgM, immunodeficiency, growth disturbance, lymphoma (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [1832AC474E2B]
http://linked.open...i/riv/nazevZdroje
  • J Pediatr
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 148
http://linked.open...iv/tvurceVysledku
  • Litzman, Jiří
  • Devito, Rita
  • Durandy, Anne
  • Brousse, Nicolle
  • Callea, Francesco
  • Carsetti, Rita
  • Chini, Loredana
  • DiCesare, Silvia
  • Geissman, Frederic
  • Moschese, Viviana
  • Rossi, Paolo
issn
  • 0022-3476
number of pages
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