A Cohort Study on Deficiency of ADA2 from China

ConclusionTo establish early diagnosis and improve clinical outcomes, genetic screening and/or testing of ADA2 enzymatic activity should be performed in patients with suspected clinical features. TNFi is considered as first line treatment for those with vascular phenotypes. HSCT may be beneficial for those with hematological disease or in those who are refractory to TNFi.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research