Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome

LITZMAN, Jiří, Věra BRYŠOVÁ, Renata GAILLYOVÁ, Vojtěch THON, Anna PIJÁČKOVÁ, Kira MICHALOVÁ, Jindřich LOKAJ and Zdena ZEMANOVÁ. Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome. J Paediart Child Health. Carlton, Australia: Blackwell Science, 1998, vol. 34, No 1, p. 92-94. ISSN 1034-4810.

Basic information

Original name

Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome

Name in Czech

Agamaglobulinemie u děvčete s 18. ring chromosomem

Authors

LITZMAN, Jiří (203 Czech Republic, guarantor), Věra BRYŠOVÁ (203 Czech Republic), Renata GAILLYOVÁ (203 Czech Republic), Vojtěch THON (203 Czech Republic), Anna PIJÁČKOVÁ (203 Czech Republic), Kira MICHALOVÁ (203 Czech Republic), Jindřich LOKAJ (203 Czech Republic) and Zdena ZEMANOVÁ (203 Czech Republic)

Edition

J Paediart Child Health, Carlton, Australia, Blackwell Science, 1998, 1034-4810

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Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30102 Immunology

Country of publisher

Australia

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 0.359

RIV identification code

RIV/00216224:14110/98:00030426

Organization unit

Faculty of Medicine

UT WoS

000072751500021

Keywords (in Czech)

agamaglobulinemie; ring chromosom 18

Keywords in English

agammaglobulinaemia; chromosome 18; ring chromosome

Tags

agammaglobulinaemia, chromosome 18, ring chromosome

Tags

International impact, Reviewed

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Abstract

V originále

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.

In Czech

Popis pacientky s 18 r chromozomem.