Unmanipulated bone marrow infusion without conditioning can rescue RECQL4−/− severe combined immunodeficiency
Alexandra E. Grier, Marita Bosticardo, Francesca Pala, Ottavia M. Delmonte, Kayla Amini, Eduardo Anaya, Neil Romberg, Susan E. McClory, Nancy J. Bunin, Manar Abdalgani, Luigi D. Notarangelo, Jennifer Heimall
TL;DR
This paper shows that bone marrow infusion without conditioning can treat severe immunodeficiency caused by RECQL4 mutations.
Contribution
Demonstrates successful treatment of RECQL4−/− SCID using unmanipulated bone marrow infusion without conditioning.
Findings
RECQL4−/− SCID can be rescued with unconditioned bone marrow infusion.
T cell defects in RECQL4−/− SCID are intrinsic and transplantable.
DNA repair defects cause radiosensitivity, limiting conditioning options.
Abstract
Mutations in DNA helicase RECQL4 can cause immunodeficiency, including SCID. The T cell defects are intrinsic to the hematopoietic system and amenable to hematopoietic stem cell transplant. Radiosensitivity due to DNA-repair defects limits conditioning regimen options. Mutations in DNA helicase RECQL4 can cause immunodeficiency, including SCID. The T cell defects are intrinsic to the hematopoietic system and amenable to hematopoietic stem cell transplant. Radiosensitivity due to DNA repair defects limits conditioning regimen options.
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Taxonomy
TopicsDNA Repair Mechanisms · Immunodeficiency and Autoimmune Disorders · Acute Myeloid Leukemia Research