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Lookup NU author(s): Dr Intan Abd Hamid, Professor Mary Slatter, Professor Mark PearceORCiD, Professor Andrew GenneryORCiD
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© 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.
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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