نتایج جستجو برای: chronic granulomatous disease cgd
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background and purpose: chronic granulomatous disease (cgd) is an inherited disorder of the nicotinamide adenine dinucleotide phosphate (nadph) oxidase complex. this disorder results in recurrent life-threatening bacterial and fungal infections. aspergillus species are the most common fungal infections in these patients. case report: herein, we present a case of fungal infection in a girl with ...
Invasive aspergillosis is an important cause of morbidity and mortality in immunocompromised patients. Among primary immunodefiencies, chronic granulomatous disease (CGD) has the highest prevalence of invasive fungal diseases. Voriconazole is recommended for the primary treatment of invasive aspergillosis in most patients. In patients whose aspergillosis is refractory to voriconazole, therapeut...
Femoral osteomyelitis due to Cladophialophora arxii in a patient with chronic granulomatous disease.
Fungal infections in patients with chronic granulomatous disease (CGD) are a poor prognostic factor. We describe the first case of CGD with femoral osteomyelitis due to Cladophialophora arxii, which is a member of the dematiaceous group. The causative fungus was identified on the basis of its morphological characteristics, growth temperature profile, and nucleotide sequence on the internal tran...
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...
Chronic granulomatous disease (CGD) encompasses a group of rare inherited disorders characterized by defects in a phagocyte-specific NADPH-oxidase complex that forms the superoxide radical during the respiratory burst. In this chapter, the protein components and cellular biochemistry of the oxidase are reviewed in light of recent genetic and biochemical studies of CGD. The classification and mo...
A patient with an X-linked genetic disease resembling chronic granulomatous disease (CGD) but differing in several aspects from previously studied cases is described. The oxidase enzyme of the patient's granulocytes was normally activated, but had reduced activity as shown by an increased Michaelis constant and decreased maximum velocity of NADPH-dependent superoxide production. Cytochrome-b wa...
Chronic granulomatous disease (CGD) was characterised half a century ago as a primary immunodeficiency disorder of phagocytic cells resulting in failure to kill a specific spectrum of bacteria and fungi and in concomitant hyperinflammation with widespread tissue granuloma formation. CGD now comprises five genetic defects, each impairing one of five essential subunits of the phagocyte NADPH oxid...
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...
Chronic granulomatous disease (CGD) can result from any of four single gene defects involving components of the superoxide (0;')-generating phagocyte NADPH oxidase (phox). The phox transmembrane flavocytochrome bsss is composed of two peptides, gpS1Ph" and ~ 2 2 ~ " " . Mutations of gp9lW" cause X-linked CGD, whereas mutations of p22pho" cause one of the three autosomal recessive forms of CGD....
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