[CIS PIDD] [cis-pidd] CGD carriers with mucositis

[CIS-PIDD]

If you can buy a couple of years, she might be eligible for X-CGD gene therapy.

Do you have a biopsy or scraping of the mucositis?  Specifically, what are the infiltrating cells?  I would guess neutrophils, but maybe worth a look.

Joe Church
Children's Hospital Los Angeles



-----Original Message-----
From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org] 
Sent: Wednesday, August 31, 2016 8:18 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] CGD carriers with mucositis

If she ends up being steroid dependent-I'm not so sure that is different than CGD IBD for which we would do a transplant.  I too wool have a hard time moving forward with a transplant but perhaps we should be.

Just food for thought.

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


> On Aug 31, 2016, at 11:09 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> She has been to the NIH and her oxburst measured at what she said was 15%
> which is above what they would consider for transplant (per mom)
> 
> She doesn't get infections, an her symptoms are limited to her mouth and
> skin so hard to push for a BMT.
> 
> On 8/25/16, 12:51 AM, "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> wrote:
> 
>> Dear James,
>> 
>> we have done allogeneic bone marrow transplantation in a X-CGD female
>> carrier with non-random X-chromosome inactivation and therapy-refractory
>> inflammatory bowel disease. You could check the degree of X-chromosome
>> inactivation by DHR-123 testing  first and reevaluate histopathology
>> (pigment-laden macrophages etc. ) and then see if transplantation might
>> be an option (PMID: 26464403).
>> 
>> Best regards, Fabian
>> 
>> -----Ursprüngliche Nachricht-----
>> Von: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
>> Gesendet: Mittwoch, 24. August 2016 22:32
>> An: CIS-PIDD
>> Betreff: [cis-pidd] CGD carriers with mucositis
>> 
>> I replied to a post about scid so resending
>> 
>> I have a quick question about CGD carriers
>> 
>> I have a mother of a son with X-linked CGD who has had horrible oral
>> mucositis as well as discoid lupus on her arms.  I know this can occur in
>> carriers.  She dealt with this her entire life.  No other infections.
>> 
>> She has been tried on plaquenil, Imuran, topical steroids, and oral
>> steroids (as a teenager, stopped since she didn't like the side effects)
>> 
>> Anyone care for moms of CGD patients with similar symptoms and if so has
>> anything worked?
>> 
>> We are going to try a short course of steroids, and then perhaps
>> colchicine.  Our next thought was TNF blockers (a little nervous with her
>> SLE like rashes that things could worsen but if nothing else works we may
>> try this.)
>> 
>> Thanks
>> 
>> James
>> 
>> 
>> James W. Verbsky M.D./Ph.D.
>> Associate Professor of Pediatrics and Microbiology Medical Director,
>> Clinical Immunology Research Laboratory Medical Director, Clinical and
>> Translational Research Medical College of Wisconsin Milwaukee, WI
>> 
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