Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene

J Clin Pathol. 2008 Nov;61(11):1220-2. doi: 10.1136/jcp.2008.058362.

Abstract

Cerebral toxoplasmosis can occur outside the setting of advanced HIV immunodeficiency or drug-induced immunosuppression. A case of cerebral toxoplasmosis is reported in a previously healthy 41-year-old man who was found to have a genetic defect in CD40 ligand, resulting in the X linked hyper-IgM syndrome despite normal surface protein expression on flow cytometry. This highlights the fact that primary immunodeficiencies can first present late in life with a relatively mild phenotype and should be considered in the differential diagnosis of opportunistic infections in non-HIV infected patients; in addition, normal protein expression does not necessarily rule out hypomorphic mutations.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • CD40 Ligand / blood
  • CD40 Ligand / genetics*
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome / complications*
  • Hyper-IgM Immunodeficiency Syndrome / diagnosis
  • Hyper-IgM Immunodeficiency Syndrome / genetics
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Opportunistic Infections / complications*
  • Opportunistic Infections / diagnosis
  • Toxoplasmosis, Cerebral / complications*
  • Toxoplasmosis, Cerebral / diagnosis

Substances

  • CD40 Ligand