[CIS-PAGID] looking for transplant advice

[Nelson, Robert P Jr]

Kate,

Although the lymph node enlargement could be related to the MAI, it seems a little odd, given the poor T cell function.  Would consider taking a lymph node out and making sure there is not a lymphoproliferative process or lymphoma.  If EBV antibody panel, EBV PCR from the peripheral blood and LDH were all negative, this possibility would be less.  Given the severity of the problem at this age, if it is "almost" severe combined immunodeficiency, then I agree with others that the only way to resolve the infection is with an allo-transplant.  If a serum IL-7 level were elevated, this would add evidence that the IL-7Ra mutation is pathophysiologically important.  MUD marrow would be my first choice with reduced intensity conditioning that does not include ATG or alemtuzumab.  

If there is not a promising donor identified with the initial NMDP search, then would consider a cord as a higher risk transplant option.  Would not offer a family member haplo.  If the transplant option is chosen and there isn't a lymphoproliferative condition, then I may not be compelled to give interferon gamma.  It would need to be stopped for a few weeks prior to transplant if it is used.  If the transplant option is not chosen then I would try interferon gamma.  I have a manuscript concerning  an experience with SCID, MAI and cord that has not been published, if you are interested, please send you email address and I will forward.  The list service won't permit attaching because of the size limits for messages.

Sincerely,
Bob   
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From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org] on behalf of Sullivan, Kathleen [sullivak at mail.med.upenn.edu]
Sent: Thursday, June 23, 2011 3:19 PM
To: pagid at list.clinimmsoc.org
Subject: [CIS-PAGID] looking for transplant advice

I am posting this question on behalf of others but the big question is:

Does it make more sense to transplant now or to try to achieve some clearance of mycobacteria prior to BMT?

The patient is a two year old with very low T cell numbers (CD3 about 100-200) and no TRECS.  Her mitogens are not completely flat but about 2-4% of the control.  She has immunoglobulin and B cells and has had some responses to vaccines.  She had PCP and now presents with MAI and huge nodes.  She was treated with triple therapy for about three weeks for her MAI and the nodes enlarged.  We have increased her MAI coverage to 5 drugs and are thinking about adding gamma-interferon.  We do not have a genetic type of SCID identified although she has a mutation of uncertain significance in the IL-7Ra gene and she has uniparental isodisomy of that chromosome.

Given this picture, what do other people think about hurrying to do a transplant on the theory that this is the only curative maneuver that can clear her MAI vs waiting to achieve some level of control and then transplanting?


Kate

Kate Sullivan, MD PhD
Professor of Pediatrics
ARC 1216 Immunology CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363