Deficiency of adenosine deaminase 2
Conditions
Interventions
Suspected DADA2 patients:NA
DADA2 carriers:NA
Sponsors
Peking Union Medical College Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1.Suspected DADA2 patients: Individuals with clinical features suggestive of DADA2 (including both previously identified and newly enrolled cases). These patients present with characteristic manifestations such as systemic inflammation, vasculopathy, early-onset stroke, hematologic cytopenias, and/or immune dysfunction, and have been clinically assessed as probable DADA2 cases by qualified physicians. 2.DADA2 carriers: Parents, children, siblings, or other relatives of genetically or enzymatically confirmed DADA2 patients who are found to carry a single heterozygous pathogenic variant in the ADA2 gene through genetic testing.
Exclusion criteria
Exclusion criteria: 1.Among suspected DADA2 patients, previously identified cases lacked detailed clinical information or genetic/enzymatic test results. 2.Among suspected DADA2 cases, archived samples from previously identified patients were either degraded or failed to meet current testing requirements. 3.Among newly enrolled suspected DADA2 patients, some were unable to provide test samples due to critical illness or other complicating factors. 4.For DADA2 carriers, detailed clinical information or genetic/enzymatic test results were unavailable. 5.Among DADA2 carriers, no qualified test samples were available. 6.Among DADA2 carriers, the genetic variants detected were classified as benign, likely benign, or variants of uncertain significance (VUS).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Serum ADA2; | — |
Countries
China
Contacts
Public ContactWang Wei
Peking Union Medical College Hospital
Outcome results
None listed