[PAGID] PAGID Digest, Vol 63, Issue 7
Jennifer Puck
PuckJ at peds.ucsf.edu
Thu Aug 26 11:17:33 EDT 2010
Duchene dystrophy is relatively common and there are many de novo cases,
especially with deletion mutations. I would guess it¹s an unrelated second
condition, since there does not seem to be the clinical picture of an
immuno-dysregulated syndrome, such as the myesthenia gravis post-BMT pt we
reported a few years ago.
Jennifer
Jennifer M. Puck, M.D.
Professor of Pediatrics
University of California, San Francisco, Box 0519
513 Parnassus Avenue, HSE 301A
San Francisco, CA 94143-0519
Email: puckj at peds.ucsf.edu
Phone: 415 476-3181
FAX: 415 502-5127
On 8/26/10 7:20 AM, "pagid-request at list.clinimmsoc.org"
<pagid-request at list.clinimmsoc.org> wrote:
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> Today's Topics:
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> 1. Re: XSCID and myopathy (Chinen, Javier)
> 2. Re: XSCID and myopathy (Renner, Eleonore PD Dr.med.)
> 3. Re: XSCID and myopathy (Chinen, Javier)
>
>
> ----------------------------------------------------------------------
>
> Message: 1
> Date: Thu, 26 Aug 2010 09:12:59 -0500
> From: "Chinen, Javier" <jxchinen at texaschildrens.org>
> Subject: Re: [PAGID] XSCID and myopathy
> To: "'pagid at list.clinimmsoc.org'" <pagid at list.clinimmsoc.org>
> Message-ID:
>
> <57F989B9F4B46F45AB896F6614C3E91D02E3873BA5 at TCBMSG01.ad.TexasChildrensHospital
> .org>
>
> Content-Type: text/plain; charset="us-ascii"
>
> Hi Mary Ellen,
> His mutation is C62R in the common gamma chain, and has a 2 yo cousin also
> affected and transplanted, so far with no muscle issues.
> The neurologist did send to Duchenne sequencing.
> Javier
>
> ________________________________
> From: pagid-bounces at list.clinimmsoc.org
> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Conley, Mary Ellen
> Sent: Thursday, August 26, 2010 9:02 AM
> To: 'pagid at list.clinimmsoc.org'
> Subject: Re: [PAGID] XSCID and myopathy
>
> Hello Javier,
> Do you know his mutation in the common gamma chain? Is it possible that he
> has an unusual mutation that affects both genes on the X chromosome?
> Mary Ellen
>
>
>
>
>
> Mary Ellen Conley, MD
> Department of Immunology/ Mail Stop 351
> St. Jude Children's Research Hospital
> 262 Danny Thomas Place
> Memphis, TN 38105-3678
> FAX 901-595-3977
> TEL 901-595-2576
>
>
> ________________________________
> From: pagid-bounces at list.clinimmsoc.org
> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Chinen, Javier
> Sent: Thursday, August 26, 2010 8:47 AM
> To: 'pagid at list.clinimmsoc.org'
> Subject: [PAGID] XSCID and myopathy
> Dear all,
>
> We take care of a 10 mo boy with XSCID, who got a 10/10 MUD BMT at 2 months of
> age. Bu/Cy/Campath for conditioning, CellCept for GvHD prophylaxis stopped in
> March. He has mixed chimerism, no GvHD. T cell proliferative studies normal,
> IVIg dependent. Since May, he has increasing ALT, AST, LDH, levels, GGT
> normal, and we have found CK, MM isoenzyme is in the 20,000s (repeated).
> Aldolase is elevated too. CRP, ESR are normal, muscle biopsy is scheduled. MRI
> T2 signal in muscles increased. Clinically not wasted, moving 4 extremities,
> almost sitting, is developing well, making progress, somewhat delayed in
> milestones although not much different from other post BMT.
> I would appreciate knowing of any similar cases and their diagnoses while we
> wait for the biopsy. Our neurologist believe this case looks like Duchennes;
> ..
>
> Many thanks,
>
> Javier
>
> ------------------------------------------------------------------------------
>
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> Message: 2
> Date: Thu, 26 Aug 2010 16:16:40 +0200
> From: "Renner, Eleonore PD Dr.med."
> <Ellen.Renner at med.uni-muenchen.de>
> Subject: Re: [PAGID] XSCID and myopathy
> To: "'pagid at list.clinimmsoc.org'" <pagid at list.clinimmsoc.org>
> Message-ID:
>
> <859270C7BD8BA440938009F10B508068205BC599 at MITEX04N.helios.med.uni-muenchen.de>
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> Content-Type: text/plain; charset="us-ascii"
>
> Hi Javier,
> I bet you have checked already: But are there any CK and GOT level before BMT?
> Best,
> Ellen
>
> ________________________________
> Von: pagid-bounces at list.clinimmsoc.org
> [mailto:pagid-bounces at list.clinimmsoc.org] Im Auftrag von Chinen, Javier
> Gesendet: Donnerstag, 26. August 2010 15:47
> An: 'pagid at list.clinimmsoc.org'
> Betreff: [PAGID] XSCID and myopathy
>
> Dear all,
>
> We take care of a 10 mo boy with XSCID, who got a 10/10 MUD BMT at 2 months of
> age. Bu/Cy/Campath for conditioning, CellCept for GvHD prophylaxis stopped in
> March. He has mixed chimerism, no GvHD. T cell proliferative studies normal,
> IVIg dependent. Since May, he has increasing ALT, AST, LDH, levels, GGT
> normal, and we have found CK, MM isoenzyme is in the 20,000s (repeated).
> Aldolase is elevated too. CRP, ESR are normal, muscle biopsy is scheduled. MRI
> T2 signal in muscles increased. Clinically not wasted, moving 4 extremities,
> almost sitting, is developing well, making progress, somewhat delayed in
> milestones although not much different from other post BMT.
> I would appreciate knowing of any similar cases and their diagnoses while we
> wait for the biopsy. Our neurologist believe this case looks like Duchennes;
> ..
>
> Many thanks,
>
> Javier
>
> ------------------------------------------------------------------------------
> CONFIDENTIALITY NOTICE:
> The information in this e-mail may be confidential and/or
> privileged. 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
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> ------------------------------
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> Message: 3
> Date: Thu, 26 Aug 2010 09:20:46 -0500
> From: "Chinen, Javier" <jxchinen at texaschildrens.org>
> Subject: Re: [PAGID] XSCID and myopathy
> To: "'pagid at list.clinimmsoc.org'" <pagid at list.clinimmsoc.org>
> Message-ID:
>
> <57F989B9F4B46F45AB896F6614C3E91D02E3873BA6 at TCBMSG01.ad.TexasChildrensHospital
> .org>
>
> Content-Type: text/plain; charset="us-ascii"
>
> Hi Ellen,
> No CK, but GOT (AST), GPT (ALT), which were only mildy elevated. ~ 70s, now
> they are in the ~350 The neurologist believe this is consistent with
> dystrophy.
> Thanks,
> Javier
>
> ________________________________
> From: pagid-bounces at list.clinimmsoc.org
> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Renner, Eleonore PD
> Dr.med.
> Sent: Thursday, August 26, 2010 9:17 AM
> To: 'pagid at list.clinimmsoc.org'
> Subject: Re: [PAGID] XSCID and myopathy
>
> Hi Javier,
> I bet you have checked already: But are there any CK and GOT level before BMT?
> Best,
> Ellen
>
> ________________________________
> Von: pagid-bounces at list.clinimmsoc.org
> [mailto:pagid-bounces at list.clinimmsoc.org] Im Auftrag von Chinen, Javier
> Gesendet: Donnerstag, 26. August 2010 15:47
> An: 'pagid at list.clinimmsoc.org'
> Betreff: [PAGID] XSCID and myopathy
> Dear all,
>
> We take care of a 10 mo boy with XSCID, who got a 10/10 MUD BMT at 2 months of
> age. Bu/Cy/Campath for conditioning, CellCept for GvHD prophylaxis stopped in
> March. He has mixed chimerism, no GvHD. T cell proliferative studies normal,
> IVIg dependent. Since May, he has increasing ALT, AST, LDH, levels, GGT
> normal, and we have found CK, MM isoenzyme is in the 20,000s (repeated).
> Aldolase is elevated too. CRP, ESR are normal, muscle biopsy is scheduled. MRI
> T2 signal in muscles increased. Clinically not wasted, moving 4 extremities,
> almost sitting, is developing well, making progress, somewhat delayed in
> milestones although not much different from other post BMT.
> I would appreciate knowing of any similar cases and their diagnoses while we
> wait for the biopsy. Our neurologist believe this case looks like Duchennes;
> ..
>
> Many thanks,
>
> Javier
>
> ------------------------------------------------------------------------------
>
> CONFIDENTIALITY NOTICE:
>
> The information in this e-mail may be confidential and/or
>
> privileged. 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 computer system. Thank you.
>
> ==============================================================================
>
> ------------------------------------------------------------
> CONFIDENTIALITY NOTICE:
> The information in this e-mail may be confidential and/or
> privileged. If you are not the intended recipient or an
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