The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Haematopoietic and immune defects associated with GATA2 mutation
Open accessAbstract
Summary: Heterozygous familial or sporadic GATA 2 mutations cause a multifaceted disorder, encompassing susceptibility to infection, pulmonary dysfunction, autoimmunity, lymphoedema and malignancy. Although often healthy in childhood, carriers of defective GATA 2 alleles develop progressive loss of mononuclear cells (dendritic cells, monocytes, B and Natural Killer lymphocytes), elevated FLT 3 ligand, and a 90% risk of clinical complications, including progression to myelodysplastic syndrome (MDS) by 60 years of age. Premature death may occur from childhood due to infection, pulmonary dysfunction, solid malignancy and MDS/acute myeloid leukaemia. GATA 2 mutations include frameshifts, amino acid substitutions, insertions and deletions scattered throughout the gene but concentrated in the region encoding the two zinc finger domains. Mutations appear to cause haplo‐insufficiency, which is known to impair haematopoietic stem cell survival in animal models. Management includes genetic counselling, prevention of infection, cancer surveillance, haematopoietic monitoring and, ultimately, stem cell transplantation upon the development of MDS or another life‐threatening complication.
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.
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
Hematopoiesis: An Evolving Paradigm for Stem Cell Biology
Orkin, S. H., & Zon, L. I. (2008) · Cell · doi:10.1016/j.cell.2008.01.025 · Cited by 2,570
Hashimoto, D., Chow, A., Noizat, C., Teo, P., Beasley, M. B., Leboeuf, M., Becker, C. D., See, P., Price, J., Lucas, D., et al. (2013) · Immunity · doi:10.1016/j.immuni.2013.04.004 · Cited by 2,311
Wilson, N. K., Foster, S. D., Wang, X., Knezevic, K., Schütte, J., Kaimakis, P., Chilarska, P. M., Kinston, S., Ouwehand, W. H., Dzierzak, E., et al. (2010) · Cell stem cell · doi:10.1016/j.stem.2010.07.016 · Cited by 728
A Single Oncogenic Enhancer Rearrangement Causes Concomitant EVI1 and GATA2 Deregulation in Leukemia
Gröschel, S., Sanders, M. A., Hoogenboezem, R., de Wit, E., Bouwman, B. A. M., Erpelinck, C., van der Velden, V. H. J., Havermans, M., Avellino, R., van Lom, K., et al. (2014) · Cell · doi:10.1016/j.cell.2014.02.019 · Cited by 687
Beck, D., Thoms, J. A. I., Perera, D., Schütte, J., Unnikrishnan, A., Knezevic, K., Kinston, S. J., Wilson, N. K., O’Brien, T. A., Göttgens, B., et al. (2013) · Blood · doi:10.1182/blood-2013-03-490425 · Cited by 133 · cited 1×
“…adult haematopoiesis, GATA2 is required for HSC survival and self-renewal, interacting with a complex network of transcription factors that specify early lineage commitment, including SPI1 (PU.1), FLI1, TAL1 (SCL), LMO2 and RUNX1, among others (Dore et al, 2012; Beck et al, 2013; May et al, 2013).”
Background
Cited by
Human dendritic cell subsets: an update
Collin, M., & Bigley, V. (2018) · Immunology · doi:10.1111/imm.12888 · Cited by 1,301
Yang, C., Siebert, J. R., Burns, R., Gerbec, Z. J., Bonacci, B., Rymaszewski, A., Rau, M., Riese, M. J., Rao, S., Carlson, K.-S., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11947-7 · Cited by 304
To, K., Cao, R., Yegiazaryan, A., Owens, J., & Venketaraman, V. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9082541 · Cited by 264
Langerhans cell origin and regulation
Collin, M., & Milne, P. (2016) · Current Opinion in Hematology · doi:10.1097/moh.0000000000000202 · Cited by 120
Self-citationBarbu, M. C., Huider, F., Campbell, A., Amador, C., Adams, M. J., Lynall, M.-E., Howard, D. M., Walker, R. M., Morris, S. W., Van Dongen, J., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-021-01412-7 · Cited by 43
Metadata
- Authors
- Collin, M., Dickinson, R., & Bigley, V.
- Venue
- British Journal of Haematology
- Publisher
- Wiley
- Published
- 2015-02-23
- Volume
- 169
- Issue
- 2
- Pages
- 173-187
- ISSN
- 0007-1048 (ISSN-L)
- 1365-2141
- OpenAlex
- W1985540837
- Cited by
- 237
- References
- 5
- FWCI
- 14.19
- Type
- journal article
- Language
- en
- Open access
- hybrid
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: Haematopoietic and immune defects associated with GATA2 mutation. https://app.cochat.ai/papers/10.1111/bjh.13317
- The paper
- Collin, M., Dickinson, R., & Bigley, V. (2015). Haematopoietic and immune defects associated with GATA2 mutation. British Journal of Haematology. https://doi.org/10.1111/bjh.13317
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
