LAUSR

OBJECTIVE To find indicators of disease severity and factors of early remission in patients with the deficiency of adenosine deaminase 2 (DADA2). We enrolled 6 DADA2 patients from 6 families. METHODS Direct sequencing of ADA2 was performed by Sanger analysis. A literature review was conducted for articles regarding pediatric DADA2. RESULTS We have found that more organs were involved in early-onset DADA2 patients and early-onset patients had high level inflammatory responses, such as elevated ESR, SF, serum amyloid A (SAA) and CRP. Disease severity was not significantly different from missense and frameshift mutation. Early administration of tumor necrosis factor (TNF) inhibitor might result in better remission and reduce recurrence. In the literature, 4 articles describing 51 pediatric DADA2 patients were identified. We also found more organs involved in early onset DADA2 patients. Fever, stroke, peripheral nervous system involvement, hypogammaglobulinemia (HGGN), and hypertension were more frequent in early onset DADA2 patients. CONCLUSION Early-onset DADA2 may be more severe. Early administration of TNF inhibitor can effectively reduce recurrence and quickly alleviate the disease.