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Abstract
Inherited defects in components of the nonhomologous end-joining DNA repair mechanism
produce a T-B-NK+ severe combined immunodeficiency disease (SCID) characterized by
heightened sensitivity to ionizing radiation. Patients with the radiosensitive form
of SCID may also have increased short- and long-term sensitivity to the alkylator-based
chemotherapy regimens that are traditionally used for conditioning before allogeneic
hematopoietic cell transplantation (HCT). Known causes of radiosensitive SCID include
deficiencies of Artemis, DNA ligase IV, DNA-dependent protein kinase catalytic subunit,
and Cernunnos-XLF, all of which have been treated with HCT. Because of these patients'
sensitivity to certain forms of chemotherapy, the approach to donor selection and
the type of conditioning regimen used for a patient with radiosensitive SCID requires
careful consideration. Significantly more research needs to be done to determine the
long-term outcomes of patients with radiosensitive SCID after HCT and to discover
novel nontoxic approaches to HCT that might benefit those patients with intrinsic
radiosensitivity and chemosensitivity as well as potentially all patients undergoing
an HCT.
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