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Lookup NU author(s): Professor Andrew GenneryORCiD, Professor Sophie HambletonORCiD, Dr Zohreh Nademi
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2025 The Authors. Persistent selective T-lymphocytopenia is found both in SCID and congenital athymia. Without molecular diagnosis, it is challenging to determine whether HCT or thymus transplantation ought to be performed. Ex vivo T-lymphopoiesis assays have been proposed to assist clinical decision-making for genetically undefined patients. We investigated 20 T-lymphocytopenic patients, including 13 patients awaiting first-line treatment and 7 patients with failed immune reconstitution after previous HCT or thymus transplantation. Whilst developmental blocks in ex vivo T-lymphopoiesis indicated hematopoietic cell-intrinsic defects, successful T-lymphocyte differentiation required careful interpretation, in conjunction with clinical status, immunophenotyping, and genetic investigations. Of the 20 patients, 13 proceeded to treatment, with successful immune reconstitution observed in 4 of the 6 patients post-HCT and 4 of the 7 patients after thymus transplantation, the latter including two patients who had previously undergone HCT. Whilst further validation and standardization are required, we conclude that assessing ex vivo T-lymphopoiesis during the diagnostic pathway for genetically undefined T-lymphocytopenia improves patient outcomes by facilitating corrective treatment choice.
Author(s): Golwala ZM, Spiridou Goncalves H, Moirangthem RD, Evans G, Lizot S, de Koning C, Garrigue A, Corredera MM, Ocampo-Godinez JM, Howley E, Kricke S, Awuah A, Obiri-Yeboa I, Rai R, Sebire N, Bernard F, Bordon Cueto De Braem V, Boztug K, Cole T, Gennery AR, Hackett S, Hambleton S, Holm M, Kusters MA, Klocperk A, Marzollo A, Marcus N, Nademi Z, Pachlopnik Schmid J, Pichler H, Sellmer A, Soler-Palacin P, Soomann M, Torpiano P, van Montfrans J, Nierkens S, Adams S, Buckland M, Gilmour K, Worth A, Thrasher AJ, Davies EG, Andre I, Kreins AY
Publication type: Article
Publication status: Published
Journal: Clinical Immunology
Year: 2025
Volume: 274
Print publication date: 01/05/2025
Online publication date: 16/02/2025
Acceptance date: 10/02/2025
Date deposited: 10/03/2025
ISSN (print): 1521-6616
ISSN (electronic): 1521-7035
Publisher: Academic Press Inc.
URL: https://doi.org/10.1016/j.clim.2025.110453
DOI: 10.1016/j.clim.2025.110453
Data Access Statement: Data will be made available on request.
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