| Accession |
PRJCA017003 |
| Title |
Case report: A novel IRF2BP2 mutation in an IEI patient with recurrent infections and autoimmune disorders |
| Relevance |
Medical |
| Data types |
Whole genome sequencing
Variation
WGS & Clinical data
|
| Organisms |
Homo sapiens
|
| 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. |
| Sample scope |
Multiisolate |
| Release date |
2023-05-15 |
| Publication |
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Shanghai Municipal Committee of Science and Technology
|
|
N/A
|
|
| Shanghai Municipal Health Commission
|
|
N/A
|
|
|
|
| Submitter |
yuan
ji (ji.yuan@zs-hospital.sh.cn)
|
| Organization |
Zhongshan Hospital, Fudan University |
| Submission date |
2023-05-15 |
