[PAGID] XSCID and myopathy

[Conley, Mary Ellen]

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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