[CIS-PAGID] ADA-SCID with HHV-6

[Joshi, Avni Y., M.D.]

> Dear Colleagues,

> Happy New year!

> We are seeking some guidance on a 2 month old Somali boy with ADA def.

> SCID.

> He presented to us about 3 wks ago with sepsis like syndrome and

> diffuse rash( see pic attached) with hepatosplenomegaly and had a ALC

> of 0.

> ADA levels were checked here at Mayo and re-confirmed at Mike

> Hershfield's lab at Duke, genetic testing is pending through Gene DX.

> 

> He was born out of a consanguineous marriage with parents being first

> cousins, but none of his 4 older sibs or parents were a match.

> We initiated a search for MUDs and cords and started him on Peg ADA

> since last  2 wks with bi-weekly dosing @60U/kg/week.

> His rash has been evaluated by our dermatology colleagues and it is

> consistent with GVHD/maternal engraftment, chimerism studies are still

> pending.

> We decided to treat it with steroids and it did improve significantly

> and steroids are being tapered now.

> 

> He developed seizures about 10 days ago and did have spinal tap done

> which showed evidence of HHV 6 ( positive via PCR) and HHV 6 viremia

> in the peripheral blood. His CT head/MRI did show some focal

> attenuation in the frontal areas which could be due to bleed or post

> infectious.

> We started him on Foscarnet  since last 3 days but clinically he

> improved even before initiation of  any specific HHV 6 therapy.

> 

> Now we have a potential 5/6 cord available and are seeking input for

> the following:

> 

> 1) What would be your thoughts on maternal engraftment on skin without

> any evidence of maternal T cells in circulation?

> 

> 2) Should we be aggressive about HHV 6 treatment? Currently we are on

> monotherapy with Foscarnet, but there are case reports in BMT

> literature about combination of Foscarnet with either ganciclovir or

> cidofovir.

>  He has clinically improved, off ventilator and his ALC has gone up to

> a 1000 in 10 days after starting Peg ADA.

> 

> 3) Now that we have a cord available, what would be your suggestion

> about conditioning regimens: would you consider RIC with FMC or would

> you suggest going the myeloablative route with a cord esp. considering

> the HHV6 issues?

> 

> 

> 

>  <<ADA rash.jpg>> 

> 

> Thanks in advance,

> Sincerely,

> 

> Avni

> 

> 

> 

> Avni Y Joshi, MD, M.Sc

> Assistant Professor of Medicine and Pediatrics

> Pediatric and Adult Allergy / Immunology 

> Cellular & Molecular Immunology Laboratory

> Pager: 507-293-5387

> Secretary: 507-538-0127

> Fax: 507-284-0727

> E-mail: joshi.avni at mayo.edu

> _______________________________

> Mayo Clinic

> 200 First Street SW

> Rochester, MN 55905

> www.mayoclinic.org

> 

> 

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