The deficiency of adenosine deaminase type 2-results of therapeutic intervention
نویسندگان
چکیده
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 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.
منابع مشابه
P-142: Adenosine Deaminase Activity during Menses, Follicular and Luteal Phases of Menstrual Cycle
Background: In recent years, numerous regulators of gonadal function have been studied. Adenosine deaminase(ADA) is widely distributed throughout human tissues and may contribute in the regulation of menstrual cycle. The purpose of this study was to determine the plasma activities of total adenosine deaminase (ADAT), and its isoenzymes, ADA1 and ADA2, and ADA1/ADA2 ratio during the menses, foll...
متن کاملCaffeine effect on adenosine deaminase catalysis: A new look at the effect of caffeine on adenosine deaminase activity
The effect of physiological concentrations of caffeine (purified from Persian tea) on adenosine deaminase (ADA) activity at physiological and pathological concentrations of adenosine (as substrate) in 50 mM Tris-HCl buffer (pH 7.3) at 37°C was investigated, using UV-VIS spectroscopy. ADA exhibited a bi-phasic activity behavior and both phases showed positive cooperativities indicating adenosine...
متن کاملAdenosine Deaminase Activity and its Relation with Glycated Hemoglobin and Uric Acid in Type 2 Diabetic Patients
Abstract Objective: It has been reported that adenosine deaminase (ADA) is a good marker for insulin function but its clinical significance in type 2 diabetes mellitus (T2DM) is not yet characterized. This study aims to assess the association of ADA with glycated hemoglobin (HbA1c) and uric acid (UA) in T2DM patients. Materials and Methods: The study population consisted of 120 subjects divi...
متن کاملCaffeine effect on adenosine deaminase catalysis: A new look at the effect of caffeine on adenosine deaminase activity
The effect of physiological concentrations of caffeine (purified from Persian tea) on adenosine deaminase (ADA) activity at physiological and pathological concentrations of adenosine (as substrate) in 50 mM Tris-HCl buffer (pH 7.3) at 37°C was investigated, using UV-VIS spectroscopy. ADA exhibited a bi-phasic activity behavior and both phases showed positive cooperativities indicating adenosine...
متن کاملAssociation of G22A variant of Adenosine Deaminase gene with coronary in-stent restenosis in coronary artery patients receiving drug-eluting stent
In-stent restenosis (ISR) is regarded as the main problem in the utilization of stents in the treatment of coronary artery atherosclerotic stenosis in percutaneous coronary intervention (PCI). This study investigated the possible role of the G22A variant of the Adenosine Deaminase gene (ADA) in the development of ISR. In this study, 91 patients who underwent PCI were divided into two groups of ...
متن کاملThermal Analysis of Adenosine Deaminase in the Presence of Sodium N-Dodecyl Sulphate
The thermal denaturation of adenosine deaminase (ADA) has been investigated in the presence of sodium n-dodecyl sulphate (SDS) over the temperature range of (293-363K) in 2.5 mM phosphate buffer, pH 6.4 by temperature scanning spectroscopy. The interaction of SDS caused the folding of adenosine deaminanse resulting in a decrease of TH (temperature of minimum solubility), TS<...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 13 شماره
صفحات -
تاریخ انتشار 2015