About: Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome     Goto   Sponge   NotDistinct   Permalink

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Description
  • A patient with a mosaic karyotype 45,XX,-18/46,XX,dic r(18)/46,XX,r(18) with multiple phenotypic abnormalities and immunodeficiency was presented at the age of 14 years. Immunological investigation revealed markedly decreased IgG, IgA and in two of three evaluations also IgM levels. Although selective IgA deficiency is frequent in patients with a ring chromosome 18, this is the third patient described with decreased levels of other immunoglobulin isotypes. The association of chromosome 18 partial deletions and immunoglobulin abnormalities suggests the presence of an as yet unrecognised gene with a pivotal role for immunoglobulin production on chromosome 18.
  • A patient with a mosaic karyotype 45,XX,-18/46,XX,dic r(18)/46,XX,r(18) with multiple phenotypic abnormalities and immunodeficiency was presented at the age of 14 years. Immunological investigation revealed markedly decreased IgG, IgA and in two of three evaluations also IgM levels. Although selective IgA deficiency is frequent in patients with a ring chromosome 18, this is the third patient described with decreased levels of other immunoglobulin isotypes. The association of chromosome 18 partial deletions and immunoglobulin abnormalities suggests the presence of an as yet unrecognised gene with a pivotal role for immunoglobulin production on chromosome 18. (en)
Title
  • Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome
  • Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome (en)
skos:prefLabel
  • Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome
  • Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome (en)
skos:notation
  • RIV/00216224:14110/98:00030426!RIV10-MSM-14110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • S
http://linked.open...iv/cisloPeriodika
  • 1
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
  • 760595
http://linked.open...ai/riv/idVysledku
  • RIV/00216224:14110/98:00030426
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • agammaglobulinaemia; chromosome 18; ring chromosome (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • AU - Australské společenství
http://linked.open...ontrolniKodProRIV
  • [3AB2088AC4E2]
http://linked.open...i/riv/nazevZdroje
  • J Paediart Child Health
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 34
http://linked.open...iv/tvurceVysledku
  • Gaillyová, Renata
  • Litzman, Jiří
  • Lokaj, Jindřich
  • Thon, Vojtěch
  • Hořínová, Věra
  • Zemanová, Zdena
  • Michalová, Kira
  • Pijáčková, Anna
http://linked.open...ain/vavai/riv/wos
  • 000072751500021
issn
  • 1034-4810
number of pages
http://localhost/t...ganizacniJednotka
  • 14110
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