primary immunodeficiency
Conditions
Interventions
Gold Standard:1. Whether there is immune deficiency
2. Primary or secondary, persistent or temporary
3. The part and degree of the defect of immune system
4. Molecular diagnosis: sequence the first / second generation genes to detect whether there is pathogenic gene mutation
detection of relative protein molecular.
Index test:PID 
newborn 
screening 
technology 
system 
based 
on 
TRECs/KRECs 
combined 
with 
quantitative 
detection
Sponsors
Children's Hospital of Chongqing Medical University
Eligibility
Sex/Gender
All
Age
No minimum to 1 Years
Inclusion criteria
Inclusion criteria: A sample of dry blood spot was screened in the clinical molecular center of children's Hospital Affiliated to Chongqing Medical University Neonatal dry blood tablets: 1. Unlimited gestational age and birth weight; 2. Heel blood collected 72 hours after birth; 3. The transportation time of dried blood tablets is within 1 month; 4. Three blood spots are complete and even.
Exclusion criteria
Exclusion criteria: 1. The transport time of blood tablets exceeds 1 month; 2. Incomplete and uneven blood spots.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| TREC;KREC; | — |
Countries
China
Contacts
Public ContactXiaodong Zhao
Children's Hospital Affiliated to Chongqing Medical University
Outcome results
None listed