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Journal of Clinical Immunology

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01-07-2021 | Immunodeficiency | Letter to Editor

Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency–Centromeric Instability–Facial Anomalies Syndrome Type 1

Authors: Monica T. Kraft, Lubna S. Mehyar, Benjamin T. Prince, Shalini C. Reshmi, Roshini S. Abraham, Rolla Abu-Arja

Published in: Journal of Clinical Immunology | Issue 5/2021

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Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, et al. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet. 2008;45(2):93–9.CrossRef

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, et al. Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome. Nat Commun. 2015 [cited 2020 Jun 1];6. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519989/.

Sterlin D, Velasco G, Moshous D, Touzot F, Mahlaoui N, Fischer A, et al. Genetic, cellular and clinical features of ICF syndrome: a French national survey. J Clin Immunol. 2016;36(2):149–59.CrossRef

Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, et al. Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet. 2013;21(11):1219–25.CrossRef

Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, et al. Clinical and immunological characterization of ICF syndrome in Japan. J Clin Immunol. 2018;38(8):927–37.CrossRef

Gennery AR, Slatter MA, Bredius RG, Hagleitner MM, Weemaes C, Cant AJ, et al. Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome. Pediatrics. 2007;120(5):e1341–4.CrossRef

Kellner ES, Rathbun PA, Marshall GS, Tolusso LK, Smolarek TA, Sun M, et al. The value of chromosome analysis to interrogate variants in DNMT3B causing immunodeficiency, centromeric instability, and facial anomaly syndrome type I (ICF1). J Clin Immunol. 2019;39(8):857–9.CrossRef

Gössling KL, Schipp C, Fischer U, Babor F, Koch G, Schuster FR, et al. Hematopoietic stem cell transplantation in an infant with immunodeficiency, centromeric instability, and facial anomaly syndrome. Front Immunol. 2017 [cited 2020 May 29];8. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491950/.

Bacigalupo A, Ballen K, Rizzo D, Giralt S, Lazarus H, Ho V, et al. Defining the intensity of conditioning regimens: working definitions. Biol Blood Marrow Transplant. 2009;15(12):1628–33.CrossRef

10.

Connelly JA, Marsh R, Parikh S, Talano J-A. Allogeneic hematopoietic cell transplantation for chronic granulomatous disease: controversies and state of the art. J Pediatr Infect Dis Soc. 2018;7(suppl_1):S31–9.CrossRef

11.

Chandra S, Bleesing JJ, Jordan MB, Grimley MS, Khandelwal P, Davies SM, et al. Post-transplant CD34+ selected stem cell “boost” for mixed chimerism after reduced-intensity conditioning hematopoietic stem cell transplantation in children and young adults with primary immune deficiencies. Biol Blood Marrow Transplant. 2018;24(7):1527–9.CrossRef

12.

Slatter MA, Rao K, Amrolia P, Flood T, Abinun M, Hambleton S, et al. Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience. Blood. 2011;117(16):4367–75.CrossRef

13.

Burk CM, Coffey KE, Mace EM, Bostwick BL, Chinn IK, Coban-Akdemir ZH, et al. Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation. J Allergy Clin Immunol Pract. 2020;8(3):1103–1106.e3.CrossRef

14.

Marsh RA, Vaughn G, Kim M-O, Li D, Jodele S, Joshi S, et al. Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation. Blood. 2010;116(26):5824–31.CrossRef

Title: Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency–Centromeric Instability–Facial Anomalies Syndrome Type 1
Authors: Monica T. Kraft
Lubna S. Mehyar
Benjamin T. Prince
Shalini C. Reshmi
Roshini S. Abraham
Rolla Abu-Arja
Publication date: 01-07-2021
Publisher: Springer US
Keyword: Immunodeficiency
Published in: Journal of Clinical Immunology / Issue 5/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-021-00984-x

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