[CIS PIDD] [cis-pidd] CGD patient with McLeod phenotype

[Pere Soler Palacin]

Dear all, we have a 16 yo patient with XL-CGD and the McLeod phenotype with subclinical myopathy due to a large deletion in the X chromosome. 
Although the patient is currently doing well he has suffered several serious bacterial infections and we are planning to perform an MUD-HSCT. 
Do you have any experience in HSCT in CGD patients with myopathy. Can conditioning or immune restoration modify the clinical course of muscle involvement? 
I've just found one case in the literature and FU is quite short after HSCT ( Treatment of McLeod phenotype chronic granulomatous disease with reduced-intensity conditioning and unrelated-donor umbilical cord blood transplantation . Suzuki N, Hatakeyama N, Yamamoto M, Mizue N, Kuroiwa Y, Yoda M, Takahashi J, Tani Y, Tsutsumi H. Int J Hematol . 2007 Jan;85(1):70- ) 


Best regards, 


P. 

Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron. Assistant Professor. Universitat Autònoma de Barcelona. 
Passeig de la Vall d'Hebron 119-129. 
08035 Barcelona. Spain. 
Tel: 0034934893140. Fax: 0034934893039. 
E-mail: psoler at vhebron.net ; 34660psp at comb.cat . Web: www.upiip.com . 


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