eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | intestinal disease |
| Comorbidity | C0021053|immune dysfunction |
| Sentences | 2 |
| PubMedID- 20309000 | Patients with ipex (immune dysfunction, polyendocrinopathy, enteropathy, x-linked) syndrome harbor mutations in the forkhead box p3 (foxp3) gene in regulatory t cells, which leads to severe autoimmunity and immune deficiency. |
| PubMedID- 23786295 | immune dysfunction polyendocrinopathy, enteropathy, x-linked syndrome, which is caused by mutations in the forkhead box p3 gene, has been a model for studying regulatory t cell biology. |
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