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

J 2014

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

HAVLICEKOVA, Zuzana, Milos JESENAK, Tomáš FREIBERGER and Peter BANOVCIN

Basic information

Original name

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

Authors

HAVLICEKOVA, Zuzana, Milos JESENAK, Tomáš FREIBERGER and Peter BANOVCIN

Edition

BIOMEDICAL PAPERS-OLOMOUC, Olomouc, PALACKY UNIV, MEDICAL FAC, 2014, 1213-8118

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30201 Cardiac and Cardiovascular systems

Country of publisher

Czech Republic

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 1.200

Organization unit

Central European Institute of Technology

DOI

http://dx.doi.org/10.5507/bp.2013.011

Keywords in English

awareness; B-lymphocytes; Bruton's tyrosine kinase; immunoglobulins; infectious complications; primary immunodeficiency; X-linked agammaglobulinemia

Abstract

V originále

Aim: Primary immunodeficiencies (PID) are becoming a recognized public health problem worldwide. The most important subgroup of these disorders 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. Case report: We report the case of a 10-year old boy with X-linked agammaglobulinaemia caused by a previously 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. Conclusion: We reported a case of X-linked agammaglobulinaemia with delayed diagnosis despite the typical anamnestic signs for primary humoral immunodeficiency. The disease was caused by a previously non-reported mutation in the BTK gene. Measurement of serum immunoglobulins should be performed in all children with recurrent, complicated respiratory infections as a screening test for humoral immunodeficiencies.

Citovat

HAVLICEKOVA, Zuzana, Milos JESENAK, Tomáš FREIBERGER and Peter BANOVCIN. X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report. BIOMEDICAL PAPERS-OLOMOUC. Olomouc: PALACKY UNIV, MEDICAL FAC, 2014. ISSN 1213-8118. Available from: https://dx.doi.org/10.5507/bp.2013.011.

@article{1160519,
   author = {Havlicekova, Zuzana and Jesenak, Milos and Freiberger, Tomáš and Banovcin, Peter},
   article_location = {Olomouc},
   doi = {http://dx.doi.org/10.5507/bp.2013.011},
   keywords = {awareness; B-lymphocytes; Bruton's tyrosine kinase; immunoglobulins; infectious complications; primary immunodeficiency; X-linked agammaglobulinemia},
   language = {eng},
   issn = {1213-8118},
   journal = {BIOMEDICAL PAPERS-OLOMOUC},
   title = {X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report},
   url = {http://biomed.papers.upol.cz/corproof.php?tartkey=bio-000000-0487#.UuD-sbRNxQI},
   year = {2014}
}

TY  - JOUR
ID  - 1160519
AU  - Havlicekova, Zuzana - Jesenak, Milos - Freiberger, Tomáš - Banovcin, Peter
PY  - 2014
TI  - X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report
JF  - BIOMEDICAL PAPERS-OLOMOUC
PB  - PALACKY UNIV, MEDICAL FAC
SN  - 12138118
KW  - awareness
KW  - B-lymphocytes
KW  - Bruton's tyrosine kinase
KW  - immunoglobulins
KW  - infectious complications
KW  - primary immunodeficiency
KW  - X-linked agammaglobulinemia
UR  - http://biomed.papers.upol.cz/corproof.php?tartkey=bio-000000-0487#.UuD-sbRNxQI
N2  - Aim: Primary immunodeficiencies (PID) are becoming a recognized public health problem worldwide. The most important subgroup of these disorders 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. Case report: We report the case of a 10-year old boy with X-linked agammaglobulinaemia caused by a previously 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. Conclusion: We reported a case of X-linked agammaglobulinaemia with delayed diagnosis despite the typical anamnestic signs for primary humoral immunodeficiency. The disease was caused by a previously non-reported mutation in the BTK gene. Measurement of serum immunoglobulins should be performed in all children with recurrent, complicated respiratory infections as a screening test for humoral immunodeficiencies.
ER  -

HAVLICEKOVA, Zuzana, Milos JESENAK, Tomáš FREIBERGER and Peter BANOVCIN. X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report. \textit{BIOMEDICAL PAPERS-OLOMOUC}. Olomouc: PALACKY UNIV, MEDICAL FAC, 2014. ISSN~1213-8118. Available from: https://dx.doi.org/10.5507/bp.2013.011.

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