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

[Chinen, Javier]

We had seen maternal CD4 only in skin in a JAK3 deficiency case

I just want to make sure you are aware of this report that I found helpful:
Sanchez JJ, Monaghan G, Børsting C, Norbury G, Morling N, Gaspar HB. Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry.
Ann Hum Genet. 2007;71(Pt 3):336-47

Javier

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Joshi, Avni Y., M.D.
Sent: Wednesday, January 12, 2011 11:07 AM
To: pagid at list.clinimmsoc.org
Subject: [CIS-PAGID] ADA-SCID with HHV-6



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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