MOSCHESE, Viviana, Jiří LITZMAN, Francesco CALLEA, Loredana CHINI, Rita DEVITO, Rita CARSETTI, Silvia DICESARE, Frederic GEISSMAN, Nicolle BROUSSE, Paolo ROSSI and Anne DURANDY. A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development. Online. J Pediatr. Mosby, 2006, vol. 148, No 3, p. 404-406. ISSN 0022-3476. [citováno 2024-04-24]
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Basic information
Original name A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development.
Name in Czech Nový typ hyper-IgM syndromu nevázaného na chromozóm X s růstovou retardací a vývojem lymfomu
Authors MOSCHESE, Viviana (380 Italy), Jiří LITZMAN (203 Czech Republic, guarantor), Francesco CALLEA (380 Italy), Loredana CHINI (380 Italy), Rita DEVITO (380 Italy), Rita CARSETTI (380 Italy), Silvia DICESARE (380 Italy), Frederic GEISSMAN (380 Italy), Nicolle BROUSSE (380 Italy), Paolo ROSSI (380 Italy) and Anne DURANDY (250 France)
Edition J Pediatr, Mosby, 2006, 0022-3476.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30209 Paediatrics
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 3.991
RIV identification code RIV/00216224:14110/06:00024058
Organization unit Faculty of Medicine
UT WoS 000236718700030
Keywords in English hyper-IgM; immunodeficiency; growth disturbance; lymphoma
Tags growth disturbance, hyper-IgM, immunodeficiency, Lymphoma
Tags International impact, Reviewed
Changed by Changed by: prof. MUDr. Jiří Litzman, CSc., učo 403. Changed: 2/4/2010 08:06.
Abstract
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.
Abstract (in Czech)
Jsou popsány kazuistiky 2 dívek s hyper IgM syndromem u nichž se objevila porucha růstu. U obou se vyminul v pubertě lymfom.
Links
NR7981, research and development projectName: Lymfocytární subpopulace u pacientů s humorálními imunodeficity
Investor: Ministry of Health of the CR
PrintDisplayed: 24/4/2024 09:50