Clinical spectrum of and outcomes for Indian children with deficiency of adenosine deaminase 2 (DADA2): a multicentric study.

Abstract

Deficiency of adenosine deaminase-2 (DADA2) is a monogenic disorder closely resembling PAN and can present to physicians across various specialties. Through this case series, we aimed to study and describe the clinical spectrum of and outcomes for Indian children with DADA2. The de-identified data from all participating centres were entered in an Excel spreadsheet, and the coordinating centre (All India Institute of Medical Sciences, New Delhi) screened the data for accuracy and completeness. We enrolled 16 children (11 females) in the study; the mean (s.d.) age at the time of onset of symptoms for males and females was 46.2 (47) and 73.6 (50.4) months, respectively. The most common clinical features in this cohort were fever and rash in 80% of patients. More than half of the children, n (%) [8, (53%)] had a CNS stroke. The other clinical features were hypertension [5(33%)], anaemia [3 (20%)] and arthralgia/arthritis in 4 (26%). These children were managed with various immunomodulators: steroids [13, (86%)], anti-TNF agents [12, (80%)], CYC [2 (13%)] and MMF [3 (20%)]. The median [interquartile range (IQR)] duration of follow-up for this cohort was 17 (10, 29) months. Fourteen children achieved remission, and none had recurrent strokes after the initiation of anti-TNF drugs. DADA-2 closely resembles PAN; early age of onset and CNS stroke are striking differentiating features from classic PAN. Most children respond well to anti-TNF agents without serious adverse events being observed during short-term follow-up.