[PAGID] update on an Omenn's patient

[Kathleen E. Sullivan]

Important to treat the patient not the lab values.  Some DiGeorges  
have done very well with just peripheral T cell engraftment.  New T  
cell via the thymus do take 3 months to come out and Omenn's usually  
have sustained some thymic damage.

Kate
On Jun 8, 2009, at 3:56 PM, <Aly.Mageed at devoschildrens.org> <Aly.Mageed at devoschildrens.org 
 > wrote:


> Hello,

>  I had asked the group for input re a patient of mine more than  

> three months ago. See below:

>

> Patient is a10 months WF, constitutionally XY test feminization, who  

> presented at 6 weeks with severe Coomb’s + AIHA. She then presented  

> on Dec 24/2008 with PCP pneumonia despite Pentamidine Px which was  

> treated successfully with Bactrim. She started having a skin rash  

> and diarrhea with FTT.ALC was 417, CD19=15, CD3= 94, CD4= 38, CD8=  

> 46 and CD16/56= 304. Low IgG and high IgE and eosinophilia, HIV is  

> negative. Mitogen stimulation was very low at 2-3% of NC (maximal  

> cpm of ~4000 on a background of 130 for PHA/ ConA). PNP is unlikely  

> with NL uric acid and ADA-B level was NL. Genetic testing is  

> negative for RAG1/2, JAK-3, Artemis, IL2RG, IL7RA.  Because of this  

> and a positive Rhino in BAL, we did an unconditioned MSD BMT 3  

> months ago. Initially we thought she was engrafting but later on  

> that proved to be likely only peripheral expansion of donor T cells.  

> The STR is only 7%  donor which is mainly T cells (55-65%).  Recent  

> CD3=437/Ml, CD4= 246 and CD8= 205. TREC = still undetectable at <78.  

> CD4 RTE=11.8% and absolute CD4 RTE= 29. CD8 RTE= 0.1 % and absolute  

> CD8 RTE= 0.2 cells. With this low thymic output 3 months post BMT  

> where do I go from here? She has done relatively better clinically  

> tolerating PEG feeds ( had major dysmotility), less aspirations  

> after Nissen, almost doubled her weight to 6.5 Kg, better diarrhea,  

> no rash ( on CSA/steroids), now negative for Rhino but repeatedly  

> positive for metapneumovirus with only mild respiratory symptoms.

> The questions are: Would she still engraft this late? Likely not.  

> Then should we move to a myeloablative BMT from the same sister  

> donor? When? Do we have to wait for metapneumovirus to disappear if  

> it ever will without good T cell function?

>

> Thanks for your help

>

>

> Aly Mageed, MD, MBA

>

> Division Chief, Pediatric Blood & Marrow Transplant Program

> Director, Stem Cell Engineering Laboratory

> Helen DeVos Children's Hospital, Spectrum Health

> Associate Professor of Pediatrics, Michigan State University

> Grand Rapids, MI

> (616)-391-3962

> aly.mageed at spectrum-health.org

>

>


Kathleen E. Sullivan MD PhD
Chief, Division of Allergy and Immunology
Professor of Pediatrics
The Children's Hospital of Philadelphia
(p) 215-590-1697
(f) 267-426-0363


-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20090608/f12d78cf/attachment-0001.html>