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

@article{Havlcekov2014XlinkedAC,
  title={X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report.},
  author={Zuzana Havl{\'i}cekov{\'a} and Milo{\vs} Jeseň{\'a}k and Tomas Freiberger and Peter B{\'a}nov{\vc}in},
  journal={Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia},
  year={2014},
  volume={158 3},
  pages={470-3}
}
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… CONTINUE READING
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