Case report: A novel IRF2BP2 mutation in an IEI patient with recurrent infections and autoimmune disorders
| Title | Case report: A novel IRF2BP2 mutation in an IEI patient with recurrent infections and autoimmune disorders |
|---|---|
| Description | We identified a novel IRF2BP2 mutation in a family with a member diagnosed with IEI. Immune monitoring and WGS as auxiliary tests are helpful in identifying genetic defects and assisting diagnosis in patients with clinically highly suspected immune abnormalities and deficiencies in inflammation regulation. In addition, mNGS techniques allow a more comprehensive assessment of the pathogenic characteristics of these patients. This report further validates the association of IRF2BP2 deficiency and IEI, and expands IEI phenotypes. |
| Organism | Homo sapiens |
| Data Type | Other Type of Clinical information |
| Data Accessibility | Open-access |
| BioProject | PRJCA017003 |
| Release Date | 2023-05-18 |
| Submitter | yuan ji (ji.yuan@zs-hospital.sh.cn) |
| Organization | Zhongshan Hospital, Fudan University |
| Submission Date | 2023-05-17 |
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| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX004089-01 | clinical data | 3 | Other Type of Clinical information | 12.0 KB | zip | 0 | |
| OMIX004089-02 | clinical imaging data | 3 | Other Type of Clinical information | 645.2 KB | zip | 0 |