Login / Signup

Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis.

Ya-Ni ZhangYuan-Yuan GaoSi-Da YangBin-Bin CaoKe-Lu ZhengPing WeiLian-Feng ChenWen-Xiong Chen
Published in: BMC neurology (2019)
Immunity function should be routinely checked in patients with severe intracranial bacterial infection. Absence of B cells even with normal level of serum immunoglobulin suggests the possibility of XLA, although this happens only in rare instances. Mutational analysis of BTK gene is crucial for accurate diagnosis to atypical patients with XLA.
Keyphrases
  • tyrosine kinase
  • high resolution
  • early onset
  • copy number
  • gene expression
  • mass spectrometry
  • drug induced
  • optic nerve
  • optical coherence tomography