Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient

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

doi:10.12688/f1000research.16825.2

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient

F1000Res. 2019 Jan 2:8:2. doi: 10.12688/f1000research.16825.2. eCollection 2019.

Authors

Affiliations

¹ Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.
² National Eye Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA.
³ Laboratory of Clinical Immunology and Microbiology, National Institute Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, 20892, USA.
⁴ 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.
⁵ Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, 20892, USA.
⁶ Division of Allergy & Immunology, Children's National Medical Center, Washington, DC, 20010, USA.

Abstract

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.

Keywords: CXCR4; Genetic Immunodeficiency; Optic neuritis; Retinitis; Toxoplasma gondii; Treatment.

Publication types

Case Reports
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural

MeSH terms

Humans
Primary Immunodeficiency Diseases*
Toxoplasma
Toxoplasmosis, Ocular*
Trimethoprim, Sulfamethoxazole Drug Combination
Warts*

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient

Authors

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Abstract

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MeSH terms

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