| LITZMAN, Jiří, Věra BRYŠOVÁ, Renata GAILLYOVÁ, Vojtěch THON, Anna PIJÁČKOVÁ, Kira MICHALOVÁ, Jindřich LOKAJ a Zdena ZEMANOVÁ. Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome. J Paediart Child Health. Carlton, Australia: Blackwell Science, 1998, roč. 34, č. 1, s. 92-94. ISSN 1034-4810. |
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@article{353519,
author = {Litzman, Jiří and Bryšová, Věra and Gaillyová, Renata and Thon, Vojtěch and Pijáčková, Anna and Michalová, Kira and Lokaj, Jindřich and Zemanová, Zdena},
article_location = {Carlton, Australia},
article_number = {1},
keywords = {agammaglobulinaemia; chromosome 18; ring chromosome},
language = {eng},
issn = {1034-4810},
journal = {J Paediart Child Health},
title = {Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome},
volume = {34},
year = {1998}
}
TY - JOUR
ID - 353519
AU - Litzman, Jiří - Bryšová, Věra - Gaillyová, Renata - Thon, Vojtěch - Pijáčková, Anna - Michalová, Kira - Lokaj, Jindřich - Zemanová, Zdena
PY - 1998
TI - Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome
JF - J Paediart Child Health
VL - 34
IS - 1
SP - 92
EP - 92
PB - Blackwell Science
SN - 10344810
KW - agammaglobulinaemia
KW - chromosome 18
KW - ring chromosome
N2 - 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.
ER -
LITZMAN, Jiří, Věra BRYŠOVÁ, Renata GAILLYOVÁ, Vojtěch THON, Anna PIJÁČKOVÁ, Kira MICHALOVÁ, Jindřich LOKAJ a Zdena ZEMANOVÁ. Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome. \textit{J Paediart Child Health}. Carlton, Australia: Blackwell Science, 1998, roč.~34, č.~1, s.~92-94. ISSN~1034-4810.
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