Atypical Manifestation of X-linked Agammaglobulinemia - the Importance of Genetic Testing
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F24%3A10486516" target="_blank" >RIV/00064203:_____/24:10486516 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/24:10486516
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=8i4vJEnFd2" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=8i4vJEnFd2</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.14712/18059694.2024.21" target="_blank" >10.14712/18059694.2024.21</a>
Alternative languages
Result language
angličtina
Original language name
Atypical Manifestation of X-linked Agammaglobulinemia - the Importance of Genetic Testing
Original language description
X-linked agammaglobulinemia (XLA) was one of the first inborn errors of immunity to be described. It is caused by pathogenic variants in the gene for Bruton tyrosine kinase (BTK), which has important functions in B cell development and maturation. Recurrent bacterial infections in the first two years of life and hypogammaglobulinemia with absent B cells in male patients are the most common symptoms. A four-month-old male patient underwent surgical removal of urachus persistens complicated with recurrent scar abscesses. Hypogammaglobulinemia (IgG, IgA, and IgM), low phagocytic activity, mild neutropenia, and a normal percentage of B cells were observed in the patient's immune laboratory profile. Over time, he suffered recurrent respiratory infections (otitis media and rhinosinusitis) and developed B cell depletion, but interestingly, this was with a normalisation of IgG and IgA levels along with undetectable IgM. Molecular-genetic testing confirmed the presence of the pathogenic variant c.1843C>T in the BTK gene, which is associated with a milder phenotype of XLA. Molecular-genetic testing uncovers the variability of clinical and laboratory features of apparently well-known inherited disorders. Patients with mild "leaky" XLA may have normal levels of non-functional or oligoclonal immunoglobulins.
Czech name
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Czech description
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Classification
Type
J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Acta Medica (Hradec Králové)
ISSN
1211-4286
e-ISSN
1805-9694
Volume of the periodical
67
Issue of the periodical within the volume
2
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
4
Pages from-to
60-63
UT code for WoS article
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EID of the result in the Scopus database
2-s2.0-85206964187