[CIS PIDD] [cis-pidd] BMT for CGD

[Prof. Dr. Antonio Condino Neto]

I have several patients like this one

All long term survivers went to BMT. The others have died, most of  
them due to pulmonary complications, infections and /or inflammation

-- 
Antonio Condino-Neto
Professor of Experimental Medicine
Institute of Biomedical Sciences, University of São Paulo
1730 Lineu Prestes Avenue, São Paulo - SP. ZIP 05508-000. Brazil
Tel (55) (11) 3091-7387 / Fax (55) (11) 3091-7224



Citando "Infante, Anthony J" <INFANTEA at uthscsa.edu>:


> I'm following a 17 year old young man with x-linked CGD, confirmed  

> in infancy by both phenotypic NBT carrier analysis and NOX2 genetic  

> mutation. He has been on prophylaxis with interferon-gamma,  

> trimethoprim-sulfa and itraconazole for many years. His last major  

> infection involved multiple abscesses of left axillary lymph nodes  

> and skin from axilla to elbow  by Nocardia at the age of 5-6 years  

> which took about a year to fully resolve despite sensitivity to  

> ampicillin. Since that time he has had an occasional skin abscess.  

> He has two HLA-matched siblings. His parents have consistently  

> refused to seriously consider hematopoietic stem cell  

> transplantation because of the peri-transplant risks and the opinion  

> that his disease is medically manageable. On a recent routine clinic  

> visit, the patient announced his intention to request HSCT upon  

> achieving emancipation at age 18 because he is tired of taking  

> medications. Your replies should address both the art and science of  

> medicine!

>

> Anthony J. Infante, MD, PhD

> Professor, Department of Pediatrics

> Associate Chairman for Research & Academic Affairs

> Chief, Division of Immunology & Infectious Diseases

> University of Texas Health Science Center at San Antonio

> 7703 Floyd Curl Drive MC7802

> San Antonio, TX 78229-3900

> infantea at uthscsa.edu<mailto:infantea at uthscsa.edu>

> tel.210-567-0510

> fax 210-567-6305

> Admin. asst. Stella Wise 210-567-5250

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