A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development.

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F06%3A00024058" target="_blank" >RIV/00216224:14110/06:00024058 - isvavai.cz</a>
Alternative codes found
RIV/00159816:_____/06:#0000362
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development.
Original language 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.
Czech name
Nový typ hyper-IgM syndromu nevázaného na chromozóm X s růstovou retardací a vývojem lymfomu
Czech description
Jsou popsány kazuistiky 2 dívek s hyper IgM syndromem u nichž se objevila porucha růstu. U obou se vyminul v pubertě lymfom.

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Project
<a href="/en/project/NR7981" target="_blank" >NR7981: Lymphocyte subpopulatins in patients with humoral immunodeficiencies</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2006
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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