Human autoimmunity at single cell resolution in aplastic anemia before and after effective immunotherapy

Abstract Severe immune aplastic anemia is a fatal disease due to the destruction of marrow hematopoietic cells by cytotoxic lymphocytes, serving as a paradigm for marrow failure syndromes and autoimmune diseases. To better understand its pathophysiology, we apply advanced single cell methodologies,...

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Main Authors: Zhijie Wu, Shouguo Gao, Xingmin Feng, Haoran Li, Nicolas Sompairac, Shirin Jamshidi, Desmond Choy, Rita Antunes Dos Reis, Qingyan Gao, Sachiko Kajigaya, Lemlem Alemu, Diego Quinones Raffo, Emma M. Groarke, Shahram Kordasti, Bhavisha A. Patel, Neal S. Young
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-60213-6
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author Zhijie Wu
Shouguo Gao
Xingmin Feng
Haoran Li
Nicolas Sompairac
Shirin Jamshidi
Desmond Choy
Rita Antunes Dos Reis
Qingyan Gao
Sachiko Kajigaya
Lemlem Alemu
Diego Quinones Raffo
Emma M. Groarke
Shahram Kordasti
Bhavisha A. Patel
Neal S. Young
author_facet Zhijie Wu
Shouguo Gao
Xingmin Feng
Haoran Li
Nicolas Sompairac
Shirin Jamshidi
Desmond Choy
Rita Antunes Dos Reis
Qingyan Gao
Sachiko Kajigaya
Lemlem Alemu
Diego Quinones Raffo
Emma M. Groarke
Shahram Kordasti
Bhavisha A. Patel
Neal S. Young
author_sort Zhijie Wu
collection DOAJ
description Abstract Severe immune aplastic anemia is a fatal disease due to the destruction of marrow hematopoietic cells by cytotoxic lymphocytes, serving as a paradigm for marrow failure syndromes and autoimmune diseases. To better understand its pathophysiology, we apply advanced single cell methodologies, including mass cytometry, single-cell RNA, and TCR/BCR sequencing, to patient samples from a clinical trial of immunosuppression and growth factor stimulation. We observe opposing changes in the abundance of myeloid cells and T cells, with T cell clonal expansion dominated by effector memory cells. Therapy reduces and suppresses cytotoxic T cells, but new T cell clones emerge hindering robust hematopoietic recovery. Enhanced cell-cell interactions including between hematopoietic cells and immune cells, in particular evolving IFNG and IFNGR, are noted in patients and are suppressed post-therapy. Hematologic recovery occurs with increases in the progenitor rather than stem cells. Genetic predispositions linked to immune activation genes enhances cytotoxic T cell activity and crosstalk with target cells.
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spelling doaj-art-bd22edbbf63e438ea68d2fcae3df83d72025-08-20T02:03:31ZengNature PortfolioNature Communications2041-17232025-05-0116112110.1038/s41467-025-60213-6Human autoimmunity at single cell resolution in aplastic anemia before and after effective immunotherapyZhijie Wu0Shouguo Gao1Xingmin Feng2Haoran Li3Nicolas Sompairac4Shirin Jamshidi5Desmond Choy6Rita Antunes Dos Reis7Qingyan Gao8Sachiko Kajigaya9Lemlem Alemu10Diego Quinones Raffo11Emma M. Groarke12Shahram Kordasti13Bhavisha A. Patel14Neal S. Young15Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of HealthHematology Branch, National Heart, Lung, and Blood Institute, National Institutes of HealthHematology Branch, National Heart, Lung, and Blood Institute, National Institutes of HealthHematology Branch, National Heart, Lung, and Blood Institute, National Institutes of HealthComprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, Faculty of Life Sciences and Medicine, King’s College LondonComprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, Faculty of Life Sciences and Medicine, King’s College LondonComprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, Faculty of Life Sciences and Medicine, King’s College LondonComprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, Faculty of Life Sciences and Medicine, King’s College LondonHematology Branch, National Heart, Lung, and Blood Institute, National Institutes of HealthHematology Branch, National Heart, Lung, and Blood Institute, National Institutes of HealthHematology Branch, National Heart, Lung, and Blood Institute, National Institutes of HealthHematology Branch, National Heart, Lung, and Blood Institute, National Institutes of HealthHematology Branch, National Heart, Lung, and Blood Institute, National Institutes of HealthComprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, Faculty of Life Sciences and Medicine, King’s College LondonHematology Branch, National Heart, Lung, and Blood Institute, National Institutes of HealthHematology Branch, National Heart, Lung, and Blood Institute, National Institutes of HealthAbstract Severe immune aplastic anemia is a fatal disease due to the destruction of marrow hematopoietic cells by cytotoxic lymphocytes, serving as a paradigm for marrow failure syndromes and autoimmune diseases. To better understand its pathophysiology, we apply advanced single cell methodologies, including mass cytometry, single-cell RNA, and TCR/BCR sequencing, to patient samples from a clinical trial of immunosuppression and growth factor stimulation. We observe opposing changes in the abundance of myeloid cells and T cells, with T cell clonal expansion dominated by effector memory cells. Therapy reduces and suppresses cytotoxic T cells, but new T cell clones emerge hindering robust hematopoietic recovery. Enhanced cell-cell interactions including between hematopoietic cells and immune cells, in particular evolving IFNG and IFNGR, are noted in patients and are suppressed post-therapy. Hematologic recovery occurs with increases in the progenitor rather than stem cells. Genetic predispositions linked to immune activation genes enhances cytotoxic T cell activity and crosstalk with target cells.https://doi.org/10.1038/s41467-025-60213-6
spellingShingle Zhijie Wu
Shouguo Gao
Xingmin Feng
Haoran Li
Nicolas Sompairac
Shirin Jamshidi
Desmond Choy
Rita Antunes Dos Reis
Qingyan Gao
Sachiko Kajigaya
Lemlem Alemu
Diego Quinones Raffo
Emma M. Groarke
Shahram Kordasti
Bhavisha A. Patel
Neal S. Young
Human autoimmunity at single cell resolution in aplastic anemia before and after effective immunotherapy
Nature Communications
title Human autoimmunity at single cell resolution in aplastic anemia before and after effective immunotherapy
title_full Human autoimmunity at single cell resolution in aplastic anemia before and after effective immunotherapy
title_fullStr Human autoimmunity at single cell resolution in aplastic anemia before and after effective immunotherapy
title_full_unstemmed Human autoimmunity at single cell resolution in aplastic anemia before and after effective immunotherapy
title_short Human autoimmunity at single cell resolution in aplastic anemia before and after effective immunotherapy
title_sort human autoimmunity at single cell resolution in aplastic anemia before and after effective immunotherapy
url https://doi.org/10.1038/s41467-025-60213-6
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