The DOI matches its Crossref record.
IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena
Abstract
The rare syndrome known as IPEX (OMIM: 304930) is characterized by immune-dysfunction, polyendocrinopathy, enteropathy, and X-linked inheritance. The gene responsible for IPEX maps to Xp11.23-q13.3, a region of the X chromosome that also harbors the Wiskott-Aldrich syndrome gene ( WASP ). IPEX syndrome results from mutations of a unique DNA binding protein gene, FOXP3. Mutations invariably impair the seemingly essential forkhead domain of the protein, which is uniquely located in the carboxyl terminus, affecting protein function. In this review, we describe the identification of IPEX as a unique X-linked syndrome, the clinical features of IPEX, mutations of the immune-specific FOXP3 DNA binding protein, and bone marrow transplantation as a potential cure for the syndrome, which is usually lethal within the first year of life in affected males.
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
Cited by
Beck, K. E., Blansfield, J. A., Tran, K. Q., Feldman, A. L., Hughes, M. S., Royal, R. E., Kammula, U. S., Topalian, S. L., Sherry, R. M., Kleiner, D., et al. (2006) · Journal of Clinical Oncology · doi:10.1200/jco.2005.04.5716 · Cited by 833
HIV Infection of Naturally Occurring and Genetically Reprogrammed Human Regulatory T-cells
Oswald-Richter, K., Grill, S. M., Shariat, N., Leelawong, M., Sundrud, M. S., Haas, D. W., & Unutmaz, D. (2004) · PLoS Biology · doi:10.1371/journal.pbio.0020198 · Cited by 301
Regulatory immune cells in regulation of intestinal inflammatory response to microbiota
Sun, M., He, C., Cong, Y., & Liu, Z. (2015) · Mucosal Immunology · doi:10.1038/mi.2015.49 · Cited by 259
Gastrointestinal toxicity of immune checkpoint inhibitors: From mechanisms to management
Samaan, M. A., Pavlidis, P., Papa, S., Powell, N., & Irving, P. M. (2018) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2018.14 · Cited by 100
Metadata
- Authors
- Bennett, C. L., & Ochs, H. D.
- Venue
- Current Opinion in Pediatrics
- Published
- 2001-12
- Volume
- 13
- Issue
- 6
- Pages
- 533-538
- ISSN
- 1040-8703 (ISSN-L)
- OpenAlex
- W2072447036
- Cited by
- 202
- References
- 0
- FWCI
- 1.61
- Type
- journal article
- Language
- en
- Open access
- closed
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: IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. https://app.cochat.ai/papers/10.1097/00008480-200112000-00007
- The paper
- Bennett, C. L., & Ochs, H. D. (2001). IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. Current Opinion in Pediatrics. https://doi.org/10.1097/00008480-200112000-00007
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.
