Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene
- 1Department of Clinical Immunology, King’s College Hospital, London, UK
- 2Guy’s, King’s and St Thomas’ School of Medicine, London, UK
- 3Molecular Immunology, Great Ormond Street Hospital, London, UK
- 4Department of Neuropathology, King’s College Hospital, London, UK
- Dr Mohammad Ibrahim, Department of Clinical Immunology, King’s College Hospital, Denmark Hill, London SE5 9RS, UK; m.ibrahim{at}kcl.ac.uk
- Accepted 14 July 2008
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.
Footnotes
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Competing interests: None.
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Patient consent: Informed consent has been obtained for the publication of the details in this report.
