X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FN - Epidemiologie, infekční nemoci a klinická imunologie

OECD FORD obor

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Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Biomedical Papers of the Faculty of Medicine of Palacky University

ISSN

1213-8118

e-ISSN

—

Svazek periodika

158

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

4

Strana od-do

470-473

Kód UT WoS článku

000345398500023

EID výsledku v databázi Scopus

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