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Mendeley readers
| Title |
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea
|
|---|---|
| Published in |
Italian Journal of Pediatrics, October 2014
|
| DOI | 10.1186/s13052-014-0068-4 |
| Pubmed ID | |
| Authors |
Daniele Zama, Ilaria Cocchi, Riccardo Masetti, Fernando Specchia, Patrizia Alvisi, Eleonora Gambineri, Mario Lima, Andrea Pession |
| Abstract |
The syndrome of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) is a rare disorder caused by mutations in the FOXP3 gene. Diarrhea, diabetes and dermatitis are the hallmark of the disease, with a typical onset within the first months of life. We describe the case of a twelve-year old male affected by a very late-onset IPEX with intractable enteropathy, which markedly improved after starting Sirolimus as second-line treatment. This case suggests that IPEX should always be considered in the differential diagnosis of watery intractable diarrhea, despite its unusual onset. |
Mendeley readers
The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 33 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 6 | 18% |
| Student > Ph. D. Student | 5 | 15% |
| Researcher | 4 | 12% |
| Student > Doctoral Student | 3 | 9% |
| Student > Postgraduate | 3 | 9% |
| Other | 5 | 15% |
| Unknown | 7 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 13 | 39% |
| Biochemistry, Genetics and Molecular Biology | 4 | 12% |
| Nursing and Health Professions | 3 | 9% |
| Agricultural and Biological Sciences | 1 | 3% |
| Linguistics | 1 | 3% |
| Other | 2 | 6% |
| Unknown | 9 | 27% |