723. In Vivo Expansion of MDS1/EVI1, PRDM16 and SETBP1 Integration Clones in Successful Chronic Granulomatous Disease (CGD) Gene Therapy Trial
نویسندگان
چکیده
منابع مشابه
Chronic Granulomatous Disease; fundamental stages in our understanding of CGD
It has been 50 years since chronic granulomatous disease was first reported as a disease which fatally affected the ability of children to survive infections. Various milestone discoveries from the insufficient ability of patients' leucocytes to destroy microbial particles to the underlying genetic predispositions through which the disease is inherited have had important consequences. Longterm ...
متن کاملChronic granulomatous disease (CGD): an immunodeficiency diagnosed in pediatric ICU
Background This paper aims at showing a severe case of a patient with Chronic Granulomatous Disease (CGD), an immunodeficiency which is not so uncommon, affecting 1/ 250000 born alive, and which is due to phagocytic dysfunction. It is characterized by inability of phagocytic cells to produce hydrogen peroxide and other oxidants needed to eliminate microorganisms, in addition there is excessive ...
متن کاملChronic granulomatous disease (CGD) presenting as quotidian fever
Clinical case The patient presented with 7 days of spiking fever not responding to oral antibiotics, arthralgias and a maculous rash. Laboratory results showed leukocytosis, thrombocytosis, CrP of 240 mg/l, ESR 100 mm. The symptoms persisted under intravenous antibiotic treatment. Focus work-up gave no evidence of an infectious origin, malignancy, IBD, vasculitis, connective tissue disease or p...
متن کاملAlu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).
Mutations that impair expression or function of the components of the phagocyte NADPH oxidase complex cause chronic granulomatous disease (CGD), which is associated with life-threatening infections and dysregulated granulomatous inflammation. In five CGD patients from four consanguineous families of two different ethnic backgrounds, we found similar genomic homozygous deletions of 1,380 bp comp...
متن کاملthe study of aaag repeat polymorphism in promoter of errg gene and its association with the risk of breast cancer in isfahan region
چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...
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ژورنال
عنوان ژورنال: Molecular Therapy
سال: 2006
ISSN: 1525-0016
DOI: 10.1016/j.ymthe.2006.08.803