The deficiency of adenosine deaminase type 2-results of therapeutic intervention

A Ombrello,B Barham,I Aksentijevich,W Flegel,P Hoffmann,P Kumar,M Hershfield,K Barron,A Jones,D Stone,Q Zhou,S Sheldon,D Kastner

doi:10.1186/1546-0096-13-s1-o40

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.

Highlights

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 we attempted a) exogenous replacement of ADA2 via fresh frozen plasma (FFP) and b) suppression of the inflammatory response using anti-tumor necrosis factor therapy

Summary

Introduction

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 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

Objectives

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Results

Conclusion