RT Journal Article
SR Electronic
T1 Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 1220
OP 1222
DO 10.1136/jcp.2008.058362
VO 61
IS 11
A1 Yong, P F K
A1 Post, F A
A1 Gilmour, K C
A1 Grosse-Kreul, D
A1 King, A
A1 Easterbrook, P
A1 Ibrahim, M A A
YR 2008
UL http://jcp.bmj.com/content/61/11/1220.abstract
AB 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.