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Unmanipulated bone marrow infusion without conditioning can rescue RECQL4 -/- severe combined immunodeficiency

Alexandra E Grier1, Marita Bosticardo2, Francesca Pala2

  • 1Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Journal of Human Immunity
|March 9, 2026
PubMed

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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