Loss-of-function mutations in the signal transducer and activator of transcription 3 (STAT3) lead to hyper-IgE syndrome, while gain-of-function (GOF) mutations in STAT3 result in immune dysregulation syndrome, which can manifest as recurrent infections, autoimmune diseases, and other clinical presentations.
Conditions
Interventions
STAT3 LOF mutation group:None
STAT3 GOF mutation group:None
Sponsors
Children's Hospital of Chongqing Medical University
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1.Diagnosed or suspected STAT3 mutation-related diseases: ?Clinical manifestations consistent with STAT3 gain-of-function (GOF) or loss-of-function (LOF) phenotypes.?Genetic testing report indicating a STAT3 gene mutation.?Laboratory functional tests showing abnormal STAT3 total protein and phosphorylation levels. (A combination of ? + ? + ? constitutes a definitive diagnosis; if the mutation is a previously reported GOF/LOF mutation, then ? + ? can be considered a definitive diagnosis; otherwise, it is considered a suspected diagnosis.); 2.Complete case information: reliable case information from the onset of the disease to the present day can be found or inquired about.
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 |
|---|---|
| Non-infection-related clinical manifestations;Survival cycle;Infection pathogen profiles;Treatment;HSCT survival rate;Infection-related clinical manifestations; | — |
Secondary
| Measure | Time frame |
|---|---|
| Demographic data; | — |
Countries
China
Contacts
Public ContactXiaodong Zhao
Children's Hospital of Chongqing Medical University
Outcome results
None listed