Clinical spectrum of and outcomes for Indian children with deficiency of adenosine deaminase 2 (DADA2): a multicentric study.
Level 4 - case-series / case-control
Multicenter case series without a control group
PubMed 39259214 · doi:10.1093/rheumatology/keae489
What was done
A multicenter case series evaluated the clinical presentation, treatment regimens, and outcomes of 16 Indian children (11 females) diagnosed with deficiency of adenosine deaminase 2 (DADA2). De-identified data from participating centers were collected and screened for accuracy at a coordinating central site.
What was found
Mean (SD) age of symptom onset was 46.2 (47) months in males and 73.6 (50.4) months in females. Common features included fever and rash in 80% of patients, central nervous system stroke in 8 (53%), hypertension in 5 (33%), arthralgia/arthritis in 4 (26%), and anemia in 3 (20%). Treatments included steroids in 13 (86%), anti-TNF agents in 12 (80%), mycophenolate mofetil in 3 (20%), and cyclophosphamide in 2 (13%). Over a median follow-up of 17 months (IQR 10–29), 14 children achieved remission, and none had recurrent strokes after starting anti-TNF therapy.
Why it matters
The study outlines the presentation of pediatric DADA2 in an Indian cohort, highlighting a high rate of CNS stroke and supporting the effectiveness of anti-TNF agents for achieving remission and preventing recurrent strokes.
Limits
Small sample size (n = 16) and retrospective case-series design without a control group. Median follow-up was relatively short (17 months), limiting evaluation of long-term safety and disease recurrence.