Unmanipulated bone marrow infusion without conditioning can rescue <i>RECQL4</i> −/− severe combined immunodeficiency
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.
Authors
- Susan McClory (ORCID: https://orcid.org/0000-0002-4607-5230)
- Eduardo Anaya
- Ottavia M. Delmonte (ORCID: https://orcid.org/0000-0002-4772-0799)
- Jennifer Heimall (ORCID: https://orcid.org/0000-0001-7939-5102)
- Neil Romberg (ORCID: https://orcid.org/0000-0002-1881-5318)
- Alexandra E. Grier (ORCID: https://orcid.org/0000-0001-5382-989X)
- F Pala
- Luigi D. Notarangelo
- Manar Abdalgani
- Nancy J. Bunin
- Kayla Amini
Institutions
- Children's Hospital of Philadelphia (US)
- National Institute of Allergy and Infectious Diseases (US)
- Columbia University (US)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2026-02-14
- DOI
- https://doi.org/10.70962/jhi.20250169
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00