Year: 2015
Type: article
Abstract: The deficiency of adenosine deaminase type 2 (DADA2) is a recessively inherited condition caused by mutations in CECR1 . Patients present with recurrent fevers and evidence of vasculitis/vasculopathy, including livedo racemosa, lacunar strokes, polyarteritis nodosa, endothelialization of the hepatic sinusoids with portal hypertension, and active colitis. There is no recombinant form of ADA2 and thus we attempted a) exogenous replacement of ADA2 via fresh frozen plasma (FFP) and b) suppression of the inflammatory response using anti-tumor necrosis factor (anti-TNF) therapy. This abstract documents 22 months of clinical treatment in the NIH DADA2 cohort.
Source: Pediatric Rheumatology
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,090
OpenAlex ID: W2173217199