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Long-Term Health Outcome and Quality of Life Post-HSCT for IL7Rα-, Artemis-, RAG1- and RAG2-Deficient Severe Combined Immunodeficiency: a Single Center Report

Lookup NU author(s): Dr Intan Abd Hamid, Dr Mary Slatter, Professor Mark Pearce, Dr Andrew Gennery

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Abstract

© 2018, Springer Science+Business Media, LLC, part of Springer Nature. Hematopoietic stem cell transplantation (HSCT) is curative for severe combined immunodeficiency (SCID), but data on long-term impact of pre-HSCT chemotherapy, immune reconstitution and quality of life (QoL) of specific SCID genotypes are limited. We evaluated the long-term immune-reconstitution, health outcome and QoL in IL7Rα SCID, Artemis and RAG1 and 2 SCID survivors > 2 years post-HSCT in our center. Clinical data and immune reconstitution parameters were collated, and patients/families answered PedsQL generic core scale v4.0 questionnaires. Thirty-nine patients with a diagnosis of IL7Rα SCID (17 patients), Artemis SCID (8 patients) and RAG1/2 SCID (13 patients) had undergone HSCT with median age at last follow up for IL7Rα SCID, 14 years (range 4–27) and Artemis and RAG1/2 SCID, 10 years (range 2–18). Many patients have ongoing medical issues at latest follow-up [IL7Rα (73%), Artemis (85%), RAG1/2 (55%)]. Artemis SCID patients experienced more sequela than RAG1/2 SCID. Conditioned recipients with Artemis and RAG SCID had more CD4+ naïve lymphocytes compared to unconditioned recipients. All patients except those of IL7Rα SCID reported lower QoL; further subset group analysis showed parents and Artemis and RAG1/2 survivors without ongoing medical issues reported normal QoL. Conditioned recipients have superior long-term thymopoiesis, chimerism and immunoglobulin-independence. QoL was normal in those who did not have medical issues at long-term follow-up.


Publication metadata

Author(s): Abd Hamid IJ, Slatter MA, McKendrick F, Pearce MS, Gennery AR

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Immunology

Year: 2018

Volume: 38

Issue: 6

Pages: 727-732

Print publication date: 01/08/2018

Online publication date: 13/08/2018

Acceptance date: 05/08/2018

ISSN (print): 0271-9142

ISSN (electronic): 1573-2592

Publisher: Springer New York LLC

URL: https://doi.org/10.1007/s10875-018-0540-9

DOI: 10.1007/s10875-018-0540-9


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