HLA-Matched, Peripheral Blood Stem Cell Transplantation Using Low Intensity Conditioning to Treat Patients With Chronic Granulomatous Disease Who Are Actively Infected

Inclusion Criteria

INCLUSION CRITERIA:

PATIENT:

Ages 1-55 years.

DHR proven CGD: Includes gp91phox, p47phox, p22phox, and p67phox deficiency.

Must have an active, life threatening non-viral infection that persists despite adequate
and appropriate medical or surgical therapy (continued presence of pathogens on histology,
culture positivity or continued radiographic evidence of infection). Patients with a
progressive infectious process despite appropriate medical or surgical intervention may be
considered for expedited enrollment into the study.

HIV negative.

No major organ dysfunction precluding transplantation.

HLA identical sibling or parent compatible at all 6 of the HLA A, B and DR antigens by
molecular typing techniques.

Left ventricular ejection fraction greater than 35% predicted.

ECOG performance status of 0-3.

DONOR:

HLA identical sibling or parent donor.

Fit to receive G-CSF and give peripheral blood stem cells (weight over 18kg, normal blood
count, normotensive, no history of stroke, no history of severe heart disease).

Female carriers of X-linked must have greater than 30% normal neutrophils.

If donor is a sibling who is a minor, he/she is the oldest eligible sibling and no adults
are eligible donors.

EXCLUSION CRITERIA:

Pregnant patients or donors.

Age greater than 55 years.

ECOG performance status of 4 or more. Psychiatric disorder or mental deficiency of the
patient or the donor sufficiently severe as to make compliance with PBSC transplantation
treatment unlikely, and making informed consent impossible.

Evidence of rapid deterioration due to progressive infection and/or organ damage.

Left ventricular ejection fraction: less than 35% predicted.

Creatinine Clearance less than 50. A maximum age adjusted serum creatinine will be used
for patients who are unable to provide an accurate 24 hour urine collection.

Serum bilirubin greater 4 mg/dl, Transaminases greater than 4 times the upper limit of
normal.

HIV positive (donor or recipient). Donors who are positive for HBV, HCV or HTLV will be
used at the discretion of the investigator.

Malignant diseases liable to relapse or progress within 5 years.

Donor who is unfit to receive G-CSF and undergo apheresis. (Uncontrolled hypertension,
history of stroke, history of heart disease, thrombocytopenia, massive splenomegaly).