Table 1.

Clinical summary of cases

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7
Diagnosis	DNA Ligase IV	Ataxia Telangiectasia	Ataxia telangiectasia	Ataxia Telangiectasia	CID (unknown genetics)	Coronin1A	Cartilage hair hypoplasia
MMR vaccine	12m	24m	12m and 17m	18m	5y and 9y	3y and 5.7y	1y
Age of onset of inflammatory process	15m	30m	39m	10 years	13 years	13 years	15 years
Sites of chronic inflammation	Skin Liver Intestine	Skin	Skin	Skin	Skin	Skin and underlying bone	Skin Liver Kidney Larynx Palate Bone marrow
Sites where rubella was detected by immunofluorescence or PCR	Skin Liver	Skin	Skin	Skin	Skin	Skin	Skin Liver Kidney
CD3 count	380 cells/uL	240 cells/uL	3074 cells/uL	3085 cells/uL	453 cells/uL	464 cells/uL	550 cells/uL
CD4 count	73 cells/uL	153 cells/uL	2450 cells/uL	1091 cells/uL	189 cells/uL	224 cells/uL	450 cells/uL
CD19 count	21 cells/uL	77 cells/uL	178 cells/uL	0 cells/uL (postrituximab)	312 cells/uL	24 cells/uL	120 cells/uL
NK cell count	432 cells/uL	184 cells/uL	1158 cells/uL	560 cells/uL	105 cells/uL	144 cells/uL	120 cells/uL
Previous treatments	Immune modulatory: Topical steroids No improvement	Antimicrobial: Cryotherapy Erythromycin Imiquimod No improvement Immune modulatory: Tacrolimus cream Hydroxycholorquine Topical steroids No improvement Oral prednisone led to some improvement	Immune modulatory: Topical steroids NSAID No improvement	Immune modulatory: Abatacept No improvement	Antimicrobial: Linezolid Clarithromycin Rifampin Isoniazid Ethambutal Voriconazole Posaconazole Interferon No improvement Amputation of finger- continued local spread	Antimicrobial: Cotrimoxazole, Azithromycin, Fluconazole, Amoxicillin-clavulanic acid, Ciprofloxacin No improvement Immune modulatory: Topical steroids No improvement Surgical excision- local recurrence	Antimicrobial:Azathioprine Azithromycin No improvement Immune modulatory; Mycophenolic acid No improvement Cyclosporine and steroids- partial response
Treated with IVIG	+	+	+	+	+	+	+
Response to nitazoxanide	Dose: 32mg/kg/d Given for norovirus- for 5 weeks with no improvement in skin lesions	Dose: 7mg/kg/d Tried for one year without improvement	Dose: 11mg/kg/d Tried for five months without improvement	Dose: 22mg/kg/d Slowing in progression and loss of rubella in skin on biopsy but subsequent involvement of bone	Dose: 16mg/kg/d Tried for 5 months without clinical improvement although rubella became undetectable by immunohistochemistry	Dose: 25mg/kg/d Tried for 4 months, no improvement	Dose: 20mg/kg/d After two months, lesions in skin, liver and kidney improved and improvement was sustained until death
Outcome	HSCT with ultimate death at d+ 135 although with improvement in lesions	Progression of granulomas with persistent rubella on repeat biopsy	HSCT with improvement in lesions (currently d+140)	Alive	Deceased from PML	Alive without HSCT (age at last F/U 18 years)	Deceased from PML