[CIS PIDD] [cis-pidd] BMT for CGD

[Church, Joseph]

Dr. Infante:

I believe that this patient's long term prognosis is poor.  I know there are exceptions, but particularly in this case (sibling donors) I would not bet on a good outcome without transplant.

I would suggest to the parents  that their son's "disease is medically manageable," but only to the point that he gets a major opportunistic infection  My current strategy is to refer every new CGD to our BMT group.  Those with donors will go to transplant.  Those without donors we manage as best we can.

Because these patients usually require full conditioning, the transplant does have significant risk, but I believe that this risk is far less than the liklihood of an early demise due to CGD complications.

Gene therapy trials are opening, but given his extraordinary luck in have two sibling donors I wouldn't wait.

If it were ME, I would opt for the transplant.

Joe Church
Children's Hospital Los Angeles

From: Infante, Anthony J [mailto:INFANTEA at uthscsa.edu]
Sent: Wednesday, February 20, 2013 1:29 PM
To: CIS-PIDD
Subject: [cis-pidd] BMT for CGD

I'm following a 17 year old young man with x-linked CGD, confirmed in infancy by both phenotypic NBT carrier analysis and NOX2 genetic mutation. He has been on prophylaxis with interferon-gamma, trimethoprim-sulfa and itraconazole for many years. His last major infection involved multiple abscesses of left axillary lymph nodes and skin from axilla to elbow  by Nocardia at the age of 5-6 years which took about a year to fully resolve despite sensitivity to ampicillin. Since that time he has had an occasional skin abscess. He has two HLA-matched siblings. His parents have consistently refused to seriously consider hematopoietic stem cell transplantation because of the peri-transplant risks and the opinion that his disease is medically manageable. On a recent routine clinic visit, the patient announced his intention to request HSCT upon achieving emancipation at age 18 because he is tired of taking medications. Your replies should address both the art and science of medicine!

Anthony J. Infante, MD, PhD
Professor, Department of Pediatrics
Associate Chairman for Research & Academic Affairs
Chief, Division of Immunology & Infectious Diseases
University of Texas Health Science Center at San Antonio
7703 Floyd Curl Drive MC7802
San Antonio, TX 78229-3900
infantea at uthscsa.edu<mailto:infantea at uthscsa.edu>
tel.210-567-0510
fax 210-567-6305
Admin. asst. Stella Wise 210-567-5250
______________________________________________________________________________________________________________________________________________________________________________________
The information in this e-mail may be confidential. This e-mail is intended to be reviewed only by the individual or organization named above. If you are not the intended recipient or an authorized representative of the intended recipient, you are hereby notified that any review, dissemination, or copying of this e-mail and its attachments, if any, or the information contained herein is prohibited. If you have received this e-mail in error, please immediately notify the sender by return e-mail and delete this e-mail from your system. Thank you.


---

The CIS-PIDD listserv is supported by:

[Description: Image removed by sender.]
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org<https://cis.execinc.com/edibo/Signup> to join!

You are currently subscribed to cis-pidd as: jchurch at chla.usc.edu<mailto:jchurch at chla.usc.edu>.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183824426.292477f2b5b77a2887c3a0060aad53a7&n=T&l=cis-pidd&o=42801926


---------------------------------------------------------------------
CONFIDENTIALITY NOTICE: This e-mail message, including any attachments, 
is for the sole use of the intended recipient(s) and may contain confidential
or legally privileged information. Any unauthorized review, use, disclosure
or distribution is prohibited. If you are not the intended recipient, please
contact the sender by reply e-mail and destroy all copies of this original message.  

---------------------------------------------------------------------


---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=42802053
or send a blank email to leave-42802053-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/pipermail/pagid/attachments/20130220/4512b873/attachment-0001.html>
-------------- next part --------------
A non-text attachment was scrubbed...
Name: not available
Type: image/jpeg
Size: 620 bytes
Desc: image001.jpg
Url : <http://seven.pairlist.net/pipermail/pagid/attachments/20130220/4512b873/attachment-0001.jpe>