Case 1
9 yo male with DOCK8 deficiency. At 7.5 years of age, he had had an episode of infectious ADEM; CSF non-inflammatory but positive for EBV and CMV PCR. He recovered well with gancyclovir and steroids. Follow-up brain MRI at 9 yo showed some gliosis. The patient was incidentally found on sinus MRI 2 months later to have a contrast enhancing lesion in the right frontal white matter extending across the corpus callosum. He was neurologically asymptomatic. CSF was acellular, positive only for EBV PCR. He was found to be seropositive for MOG-immunoglobulin G (IgG) by cell-based assay. He was treated with ivIG monthly and the MRI improved. He proceeded to HSCT.
Case 2
21 yo male with recurrent sinopulmonary infections and warts whose genetic sequencing revealed DOCK8 deficiency. He developed erythroderma; skin biopsy consistent with cytotoxic T-cell lymphoma (CTCL). PET revealed generalized lymphadenopathy consistent with Sezary syndrome. Neurologically asymptomatic but screening MRI revealed diffuse punctate FLAIR hyperintense lesions, some with contrast enhancement. CSF had 9 WBCs, positive for JC-virus and some atypical T-cells on flow cytometry. Brain biopsy confirmed PML without lymphomatous involvement. In an attempt to prevent further immunosuppression from standard chemotherapy, he was treated with bexarotene with very good partial response. He received JCV-viral specific T-cells engineered from his matched-donor brother to debulk his JC viral load before proceeding to HSCT.