STAT1 mutations
Conditions
Interventions
STAT1 mutant GOF group:none
STAT1 mutant LOF group:none
Sponsors
Children's Hospital of Chongqing Medical University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Diagnosed or suspected STAT1 mutant disease: (1) Clinical conformity with STAT1 gain-of-function (GOF) or loss-of-function (LOF) manifestations; (2) Genetic testing suggests STAT1 gene mutations; (3) Laboratory functional testing showed abnormal STAT1 functional testing ((1)+(2)+(3) for a definite diagnosis; (1)+(2) is definitive if the mutation is a reported GOF/LOF mutation, otherwise it is suspected) 2. Complete case information: reliable case information since the onset of the disease can be found or inquired
Exclusion criteria
Exclusion criteria: 1.If any of the above enrollment indicators is negative, the group will not be enrolled.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Infection;Autoimmune disease;Survival cycle;HSCT survival rate;Tumor incidence; | — |
Secondary
| Measure | Time frame |
|---|---|
| Demographic data;Infection pathogen profiles; | — |
Countries
China
Contacts
Public ContactAn Yunfei
Children's Hospital of Chongqing Medical University
Outcome results
None listed