The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Precocious clonal hematopoiesis in Down syndrome is accompanied by immune dysregulation
Abstract
Key Points: Children with Down syndrome develop early signs of clonal evolution that resemble traditional clonal hematopoiesis. Children with trisomy 21 who exhibit clonal hematopoiesis display cytokine and gene expression profiles indicative of disrupted immunity.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Among individuals with rare Mendelian cancer predisposition syndromes, carriers often show distinct CH mutational profiles reflecting strong selective pressures18–21.”
From Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy (2025) · cites this paper as [21]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Clonal hematopoiesis in human aging and disease
Jaiswal, S., & Ebert, B. L. (2019) · Science · doi:10.1126/science.aan4673 · Cited by 1,156 · cited 4×
“This interplay is evident in clonal hematopoiesis (CH), in which human hematopoietic stem and progenitor cells acquire driver mutations that promote their clonal expansion.(1) Although hematopoietic clonality is rare in young people, the incidence dramatically increases after midlife.”
BackgroundInfluentialClonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults
Young, A. L., Challen, G. A., Birmann, B. M., & Druley, T. E. (2016) · Nature Communications · doi:10.1038/ncomms12484 · Cited by 692
Trisomy 21 consistently activates the interferon response
Sullivan, K. D., Lewis, H. C., Hill, A. A., Pandey, A., Jackson, L. P., Cabral, J. M., Smith, K. P., Liggett, L. A., Gomez, E. B., Galbraith, M. D., et al. (2016) · eLife · doi:10.7554/elife.16220 · Cited by 362
Self-citationCancer as a disease of old age: changing mutational and microenvironmental landscapes
Laconi, E., Marongiu, F., & DeGregori, J. (2020) · British Journal of Cancer · doi:10.1038/s41416-019-0721-1 · Cited by 348
Self-citation
Research works printed but not linked: 16
- Antonarakis, 2020, Down syndrome, Nat Rev Dis Primers, 6, 9, 10.1038/s41572-019-0143-7 · DOI · Paper page
- Pine, 2007, Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome, Blood, 110, 2128, 10.1182/blood-2007-01-069542 · DOI
- Khan, 2011, Myeloid leukemia in Down syndrome, Crit Rev Oncog, 16, 25, 10.1615/CritRevOncog.v16.i1-2.40 · DOI
- Zipursky, 1992, Leukemia in Down syndrome: a review, Pediatr Hematol Oncol, 9, 139, 10.3109/08880019209018329 · DOI
- Liggett, 2019, FERMI: A novel method for sensitive detection of rare mutations in somatic tissue, G3 (Bethesda), 9, 2977, 10.1534/g3.119.400438 · DOI
- Tong, 2018, The clonal hematopoietic spectrum of Down syndrome and ML-DS [abstract], Blood, 132, 10.1182/blood-2018-99-120168 · DOI
- Van Rhijn, 2014, TCR bias and affinity define two compartments of the CD1b-glycolipid-specific T cell repertoire, J Immunol, 192, 4054, 10.4049/jimmunol.1400158 · DOI
- Sugimoto, 2016, Fibroblast growth factor-2 facilitates the growth and chemo-resistance of leukemia cells in the bone marrow by modulating osteoblast functions, Sci Rep, 6, 30779, 10.1038/srep30779 · DOI
- Min, 2018, Identification of novel functional variants of SIN3A and SRSF1 among somatic variants in acute myeloid leukemia patients, Mol Cells, 41, 465
- Verstrepen, 2011, TAX1BP1, a ubiquitin-binding adaptor protein in innate immunity and beyond, Trends Biochem Sci, 36, 347
- Yoon, 2012, The expression of damage-regulated autophagy modulator 2 (DRAM2) contributes to autophagy induction, Mol Biol Rep, 39, 1087, 10.1007/s11033-011-0835-x · DOI
- Araya, 2019, Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity, Proc Natl Acad Sci USA, 116, 24231, 10.1073/pnas.1908129116 · DOI · Paper page
- Troca-Marín, 2014, The Akt-mTOR pathway in Down’s syndrome: the potential use of rapamycin/rapalogs for treating cognitive deficits, CNS Neurol Disord Drug Targets, 13, 34, 10.2174/18715273113126660184 · DOI
- Hua, 2014, Vascular endothelial growth factor-C modulates proliferation and chemoresistance in acute myeloid leukemic cells through an endothelin-1-dependent induction of cyclooxygenase-2, Biochim Biophys Acta, 1843, 387, 10.1016/j.bbamcr.2013.10.015 · DOI
- Kotenko, 2003, IFN-lambdas mediate antiviral protection through a distinct class II cytokine receptor complex, Nat Immunol, 4, 69, 10.1038/ni875 · DOI
- Powers, 2019, Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors, Nat Commun, 10, 4766, 10.1038/s41467-019-12739-9 · DOI
Cited by
Clonal hematopoiesis: Mutation-specific adaptation to environmental change
Florez, M. A., Tran, B. T., Wathan, T. K., DeGregori, J., Pietras, E. M., & King, K. Y. (2022) · Cell Stem Cell · doi:10.1016/j.stem.2022.05.006 · Cited by 129
Self-citationClonal hematopoiesis and inflammation – the perpetual cycle
Avagyan, S., & Zon, L. I. (2023) · Trends in Cell Biology · doi:10.1016/j.tcb.2022.12.001 · Cited by 79
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy
Liu, J., Tran, D., Xue, L., Wiley, B. J., Vlasschaert, C., Watson, C. J., MacGregor, H. A. J., Zong, X., Chan, I. C. C., Das, I., et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02250-x · Cited by 33
Metadata
- Authors
- Liggett, L. A., Galbraith, M. D., Smith, K. P., Sullivan, K. D., Granrath, R. E., Enriquez-Estrada, B., Kinning, K. T., Shaw, J. R., Rachubinski, A. L., Espinosa, J. M., & DeGregori, J.
- Venue
- Blood Advances
- Publisher
- American Society of Hematology
- Published
- 2021-03-31
- Volume
- 5
- Issue
- 7
- Pages
- 1791-1796
- ISSN
- 2473-9529
- 2473-9537
- Cited by
- 17
- References
- 4
- Language
- en
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Precocious clonal hematopoiesis in Down syndrome is accompanied by immune dysregulation. https://app.cochat.ai/papers/10.1182/bloodadvances.2020003858
- The paper
- Liggett, L. A., Galbraith, M. D., Smith, K. P., Sullivan, K. D., Granrath, R. E., Enriquez-Estrada, B., Kinning, K. T., Shaw, J. R., Rachubinski, A. L., Espinosa, J. M., & DeGregori, J. (2021). Precocious clonal hematopoiesis in Down syndrome is accompanied by immune dysregulation. Blood Advances. https://doi.org/10.1182/bloodadvances.2020003858
