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. |
Další formáty:
BibTeX
LaTeX
RIS
@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.
|