Unmanipulated bone marrow infusion without conditioning can rescue RECQL4 −/− severe combined immunodeficiency
Authors:
- Alexandra E. GrierAGAlexandra E. Grier
- Marita BosticardoMBMarita Bosticardo
- Francesca PalaFPFrancesca Pala
- Ottavia M. DelmonteODOttavia M. Delmonte
- Kayla AminiKAKayla Amini
- Eduardo AnayaEAEduardo Anaya
- Neil RombergNRNeil Romberg
- Susan E. McClorySMSusan E. McClory
- Nancy J. BuninNBNancy J. Bunin
- Manar AbdalganiMAManar Abdalgani
- Luigi D. NotarangeloLNLuigi D. Notarangelo
- Jennifer HeimallJHJennifer Heimall
Open Access
- 6 March 2026
- journal article
- Published by Rockefeller University Press in Journal of Human Immunity
- Vol. 2 (3) , e20250169
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.Keywords
Funding Information
- Division of Intramural Research
- National Institute of Allergy and Infectious Diseases (R24AI184316-01)
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