2006
A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development.
MOSCHESE, Viviana; Jiří LITZMAN; Francesco CALLEA; Loredana CHINI; Rita DEVITO et. al.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
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
International impact, Reviewed
Changed: 2/4/2010 08:06, prof. MUDr. Jiří Litzman, CSc.
In the original language
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.
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 project |
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