PT  - JOURNAL ARTICLE
AU  - Yong, P F K
AU  - Post, F A
AU  - Gilmour, K C
AU  - Grosse-Kreul, D
AU  - King, A
AU  - Easterbrook, P
AU  - Ibrahim, M A A
TI  - Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene
AID  - 10.1136/jcp.2008.058362
DP  - 2008 Nov 01
TA  - Journal of Clinical Pathology
PG  - 1220--1222
VI  - 61
IP  - 11
4099  - http://jcp.bmj.com/content/61/11/1220.short
4100  - http://jcp.bmj.com/content/61/11/1220.full
SO  - J Clin Pathol2008 Nov 01; 61
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.