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

[CIS-PIDD]

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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