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

[Infante, Anthony J]

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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