X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209775%3A_____%2F14%3A%230000284" target="_blank" >RIV/00209775:_____/14:#0000284 - isvavai.cz</a>
Result on the web
<a href="http://biomed.papers.upol.cz/pdfs/bio/2014/03/23.pdf" target="_blank" >http://biomed.papers.upol.cz/pdfs/bio/2014/03/23.pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.5507/bp.2013.011" target="_blank" >10.5507/bp.2013.011</a>
Alternative languages
Result language
angličtina
Original language name
X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report
Original language description
Primary immunodeficiencies (PID) are becoming a recognized public health problem worldwide. The most important subgroup of these disordes are the antibody deficiencies. X-linked agammaglobulinaemia was the first described entity of this group and is characterised by early onset of recurrent bacterial infections, profound deficiency of all immunoglobulin isotypes and markedly reduced number of peripheral B.-lymphocytes. We report the case of a 10-year old boy with X-linked agammaglobulinaemia caused by apreviously non-described mutation in BTK gene with typical clinical presentation but delayed diagnosis. Following diagnosis, substitution therapy with intravenous immunoglobulins was started and the clinical status of the patient improved. We reported acase of X-linked agammaglobulineamia with delayed diagnosis despite the typical anamnestic signs for primary humoral immunodeficiency. The disease was caused by a previously non-reported mutationin in the BTK gene. Measurement of serum i
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FN - Epidemiology, infection diseases and clinical immunology
OECD FORD branch
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Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Biomedical Papers of the Faculty of Medicine of Palacky University
ISSN
1213-8118
e-ISSN
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Volume of the periodical
158
Issue of the periodical within the volume
3
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
4
Pages from-to
470-473
UT code for WoS article
000345398500023
EID of the result in the Scopus database
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