A single-cell atlas of bone marrow B cells reveals defective central B-cell tolerance in immune thrombocytopenia
(2025) In Blood- Abstract
Immune thrombocytopenia (ITP) is characterized by the overproduction of antiplatelet autoantibodies. Although B-cell depletion therapies show promise in ITP, their high relapse rates suggest a potential de novo breakdown of tolerance during an early stage of B-cell development. Here, we investigated how central B-cell tolerance mechanisms affect autoantibody production in ITP. Paired single-cell RNA/B-cell receptor (BCR) sequencing and bulk BCR sequencing revealed reduced V-J genomic distances in immunoglobulin kappa-chain (IGK) genes within bone marrow and peripheral B cells from patients with ITP, along with decreased expression of recombination-activating gene in the immature B cells, suggesting insufficient receptor editing.... (More)
Immune thrombocytopenia (ITP) is characterized by the overproduction of antiplatelet autoantibodies. Although B-cell depletion therapies show promise in ITP, their high relapse rates suggest a potential de novo breakdown of tolerance during an early stage of B-cell development. Here, we investigated how central B-cell tolerance mechanisms affect autoantibody production in ITP. Paired single-cell RNA/B-cell receptor (BCR) sequencing and bulk BCR sequencing revealed reduced V-J genomic distances in immunoglobulin kappa-chain (IGK) genes within bone marrow and peripheral B cells from patients with ITP, along with decreased expression of recombination-activating gene in the immature B cells, suggesting insufficient receptor editing. Single-cell antibody cloning demonstrated increased autoreactive and polyreactive naïve B cells in ITP, indicating defective central B-cell tolerance. Through an in vivo study, we established a causal link between receptor editing defects and antiplatelet antibody production, validating the immature B-cell stage as the key phase of dysregulation. These findings suggest that insufficient receptor editing of immature B cells triggers central B-cell tolerance deficiency and autoantibody accumulation in ITP.
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- author
- organization
- publishing date
- 2025
- type
- Contribution to journal
- publication status
- in press
- subject
- in
- Blood
- publisher
- American Society of Hematology
- external identifiers
-
- scopus:105026089931
- pmid:41032749
- ISSN
- 0006-4971
- DOI
- 10.1182/blood.2025028960
- language
- English
- LU publication?
- yes
- id
- ee6af26b-2a87-45b8-9e56-485cfe6796f3
- date added to LUP
- 2026-02-23 10:24:33
- date last changed
- 2026-06-02 00:18:05
@article{ee6af26b-2a87-45b8-9e56-485cfe6796f3,
abstract = {{<p>Immune thrombocytopenia (ITP) is characterized by the overproduction of antiplatelet autoantibodies. Although B-cell depletion therapies show promise in ITP, their high relapse rates suggest a potential de novo breakdown of tolerance during an early stage of B-cell development. Here, we investigated how central B-cell tolerance mechanisms affect autoantibody production in ITP. Paired single-cell RNA/B-cell receptor (BCR) sequencing and bulk BCR sequencing revealed reduced V-J genomic distances in immunoglobulin kappa-chain (IGK) genes within bone marrow and peripheral B cells from patients with ITP, along with decreased expression of recombination-activating gene in the immature B cells, suggesting insufficient receptor editing. Single-cell antibody cloning demonstrated increased autoreactive and polyreactive naïve B cells in ITP, indicating defective central B-cell tolerance. Through an in vivo study, we established a causal link between receptor editing defects and antiplatelet antibody production, validating the immature B-cell stage as the key phase of dysregulation. These findings suggest that insufficient receptor editing of immature B cells triggers central B-cell tolerance deficiency and autoantibody accumulation in ITP.</p>}},
author = {{Sheng, Zi and Jiang, Nan and Gao, Yan and Zhang, Yuhan and Zhang, Xiaoyu and Li, Nailin and Feng, Qi and Zhang, Yanqi and Wang, Limei and Semple, John W. and Wang, Shuwen and Li, Song and Peng, Jun}},
issn = {{0006-4971}},
language = {{eng}},
publisher = {{American Society of Hematology}},
series = {{Blood}},
title = {{A single-cell atlas of bone marrow B cells reveals defective central B-cell tolerance in immune thrombocytopenia}},
url = {{http://dx.doi.org/10.1182/blood.2025028960}},
doi = {{10.1182/blood.2025028960}},
year = {{2025}},
}