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Preliminary tests found that some newborns heel blood amount could not meet the test needs.
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The presentation of IBD in early childhood is uncommon and the monogenetic defects, especially IL-10 signaling pathway play a key role in very early onset inflammatory bowel disease (VEO-IBD). IL-10 or IL-10R deficiency associated VEO-IBD is considered a rare disorder. To date, there were about 60 cases were reported all over the word. But in our Chinese VEO-IBD Collaboration Group, 42 patients with biallelic mutations affecting IL10R genes were identified from 93 VEO-IBD patients, and the mutation sites are highly concentrated, including 83.9% (26/31) with p.R101W and 55% p.T179T (17/31) mutation, and the proportion of patients from Henan( A province of China) is higher. So we speculate that IL-10RA mutation may not be very rare, and the frequency of heterozygote subjects might be higher than suspected.
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| Measure | Description | Time Frame |
|---|---|---|
| The mutation rate of IL-10RA in chinese | All present mutations in IL-10RA | From birth to 3 years old |
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Inclusion Criteria:
Exclusion Criteria:
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In the study period, all newborns in the selected hospital were included.
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| Name | Affiliation | Role |
|---|---|---|
| Ying Huang, MD and PhD | Children's Hospital of Fudan University | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's hospital of Fudan university | Shanghai | Shanghai Municipality | 201102 | China |
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| ID | Term |
|---|---|
| D004066 | Digestive System Diseases |
| D015212 | Inflammatory Bowel Diseases |
| ID | Term |
|---|---|
| D005759 | Gastroenteritis |
| D005767 | Gastrointestinal Diseases |
| D007410 | Intestinal Diseases |
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Samples will be stored in 4 degrees refrigerator for the future research