Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient [version 2; peer review: 3 approved]
David H. McDermott,
Lauren E. Heusinkveld,
Wadih M. Zein,
H. Nida Sen,
Martha M. Marquesen,
Mark Parta,
Sergio D. Rosenzweig,
Gary A. Fahle,
Michael D. Keller,
Henry E. Wiley,
Philip M. Murphy
Affiliations
David H. McDermott
Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA
Lauren E. Heusinkveld
Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA
Wadih M. Zein
National Eye Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA
H. Nida Sen
National Eye Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA
Martha M. Marquesen
Laboratory of Clinical Immunology and Microbiology, National Institute Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, 20892, USA
Mark Parta
Clinical Research Directorate/Clinical Monitoring Research Program, Bethesda, MD, Frederick National Laboratory for Cancer Research sponsored by the National Cancer Institute, Bethesda, Maryland, 20892, USA
Sergio D. Rosenzweig
Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, 20892, USA
Gary A. Fahle
Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, 20892, USA
Michael D. Keller
Division of Allergy & Immunology, Children’s National Medical Center, Washington, DC, 20010, USA
Henry E. Wiley
National Eye Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA
Philip M. Murphy
Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA
A patient with WHIM syndrome immunodeficiency presented with sudden painless right eye blindness associated with advanced retinal and optic nerve damage. Toxoplasma gondii was detected by PCR in vitreous fluid but not serum. The patient was treated with pyrimethamine/sulfadiazine for 6 weeks due to evidence of active ocular inflammation and then received prophylaxis with trimethoprim-sulfamethoxazole due to his immunosuppression. Vision did not return; however, the infection did not spread to involve other sites. Toxoplasmosis is rare in primary immunodeficiency disorders and is the first protozoan infection reported in WHIM syndrome.
