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

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. ISSN 1213-8118. doi:10.5507/bp.2013.011. 2014.

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

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: 30201 Cardiac and Cardiovascular systems
• Country of publisher: Czech Republic
• Confidentiality degree: is not subject to a state or trade secret
• WWW: 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
• Tags: ne MU, neMU, ok
• Tags: Reviewed

Abstract

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.