711 DIAGNOSING THE CARRIER STATE IN CHRONIC GRANULOMATOUS DISEASE (CGD)
نویسندگان
چکیده
منابع مشابه
X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother.
BACKGROUND Chronic granulomatous disease (CGD) is a rare primary immunodeficiency (PID) caused by a dysfunctional respiratory burst enzyme NADPH-oxidase. The concurrence of Klinefelter's Syndrome (KS) and CGD would be extremely rare. OBJECTIVE We describe the study of a family where the youngest male child had X-linked CGD (X-CGD) while his older brother was both an X-CGD carrier and a Klinef...
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 کاملChronic 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 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...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1978
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197804001-00716