Progressive neurodegenerative syndrome in a patient with x-linked agammaglobulinemia receiving intravenous immunoglobulin therapy

Sag A., SAKA E., Ozgur T. T., SANAL O., AYVAZ D. N., ELİBOL B., ...More

Cognitive and Behavioral Neurology, vol.27, no.3, pp.155-159, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 3
  • Publication Date: 2014
  • Doi Number: 10.1097/wnn.0000000000000037
  • Journal Name: Cognitive and Behavioral Neurology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.155-159
  • Keywords: neurodegeneration, X-linked agammaglobulinemia, immunodeficiency, Bruton agammaglobulinemia, DISEASE, AUTOIMMUNITY, CELLS
  • Hacettepe University Affiliated: Yes


A progressive encephalopathy of unknown etiology has been described in patients with primary immunodeficiency disorders. In this report, we characterize the clinical features of this progressive neurodegenerative dementing disorder in a young man with Bruton agammaglobulinemia, through neuropsychological tests and a video sequence. The clinical course of the encephalopathy seems rather uniform: Cognition, especially frontal lobe function, is affected in the early stages, and some patients develop movement disorders. The syndrome causes severe cognitive and physical disability, and can eventually be fatal. The autoimmunity results from dysregulated immune responses, but the underlying mechanism has not yet been fully explained.