Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells From Patients With DOCK8 Deficiency, LAD-1, and GATA2 Deficiency
Primary immunodeficiency diseases (PID) represent candidate genetic disorders for new
therapeutic approaches. Our laboratory is developing gene therapy for patients with PID
using autologous CD34+ hematopoietic stem cells (HSC). Gene therapy may circumvent problems
with allogeneic HSC transplantation, especially graft rejection and
graft-versus-host-disease. We are particularly interested in three PID: Dedicator of
CytoKinesis-8 (DOCK8) deficiency, Leukocyte Adhesion Deficiency type 1 (LAD-1), and GATA2
Deficiency. For DOCK8 deficiency, and LAD-1, the disease gene has been cloned. The genetic
basis for MonoMAC has now been determined to be due to mutations in GATA2.. Testing new
vector constructs and transduction conditions for gene therapy would be considerably
enhanced by the acquisition of peripheral blood CD34+ cells from patients with these
To provide a source of granulocyte colony stimulating factor (G-CSF) mobilized peripheral
blood CD34+ hematopoietic stem cells (HSC) for laboratory research studies including
optimization of vector and transduction conditions for gene therapy for DOCK8 deficiency,
LAD-1, and MonoMAC.
Patients 15-40 years old with DOCK8 deficiency, LAD-1, and MonoMAC who meet the eligibility
requirements will be considered for this protocol.
Patients 15-40 years old with DOCK8 deficiency, LAD-1, and MonoMAC will receive five days of
G-CSF followed by a single apheresis. CD34+ cell will be selected and frozen in aliquots by
the Cell Processing Section of the Department of Transfusion Medicine. No treatments, or
investigational therapy will be administered on this protocol.
Time Perspective: Prospective
Dennis D Hickstein, M.D.
National Cancer Institute (NCI)
United States: Federal Government
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