Disease relevance of Granulomatous Disease, Chronic

• Stimulated PMN from patients with chronic granulomatous disease (CGD) were not viricidal to HIV unless H2O2 or glucose oxidase (which generates H2O2) was added, and the viricidal activity of H2O2-supplemented CGD PMN was inhibited by azide, implicating endogenous MPO [1].
• The decrease in the frequency and severity of bacterial infections in four of five children with chronic granulomatous disease (C.G.D.) on long-term sulphonamide therapy was out of proportion to demonstrable direct antibacterial effects of the drug [2].
• We are reporting a male patient who suffered from chronic granulomatous disease associated with cytochrome b-245 deficiency and McLeod red cell phenotype, Duchenne muscular dystrophy, and retinitis pigmentosa [3].
• Gene targeting of X chromosome-linked chronic granulomatous disease locus in a human myeloid leukemia cell line and rescue by expression of recombinant gp91phox [4].
• Stimulated monocytes from patients with chronic granulomatous disease (CGD) or hereditary MPO deficiency were not viricidal to HIV-1 unless they were supplemented with the H2O2-generating enzyme glucose oxidase or MPO, respectively [5].

High impact information on Granulomatous Disease, Chronic

• Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft [6].
• Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system [7].
• A variant of chronic granulomatous disease: deficient oxidative metabolism due to a low-affinity NADPH oxidase [8].
• These findings suggest that chronic granulomatous disease represents either a defect in a pyridine nucleotide-dependent superoxide-forming oxidase or a lesion in the apparatus responsible for activating the oxidase [9].
• The bacteriocidal capacity of phagocytic cells is impaired in X-linked chronic granulomatous disease (X-CGD), a disorder characterized by the absence of functional plasma-membrane-associated NADPH oxidase [10].

Chemical compound and disease context of Granulomatous Disease, Chronic

• The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex [10].
• Chronic granulomatous diseases (CGDs) are characterized by recurrent infections resulting from impaired superoxide production by a phagocytic cell, nicotinamide adenine dinucleotide phosphate (reduced) (NADPH) oxidase [11].
• A chronic granulomatous disease (CGD)-associated mutation in the p47(phox) PX domain that abrogates PtdIns(3)P binding maps to a conserved Arg that does not directly interact with the phosphoinositide but instead appears to stabilize a critical lipid binding loop [12].
• Stimulated monocytes from patients with chronic granulomatous disease also are unable to degrade LTC4 under these conditions [13].
• Greatly diminished O2- production was seen with particles prepared from cells obtained from three patients with chronic granulomatous disease, with 2.5 mM NADPH as electron donor [14].

Biological context of Granulomatous Disease, Chronic

• Ethylene was not produced by zymosan-treated cells from patients with chronic granulomatous disease, confirming the requirement for respiratory burst activity in this process [15].
• A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease [16].
• Monocytes from a patient with chronic granulomatous disease failed to generate ethylene during phagocytosis [17].
• Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome [3].
• Protein phosphorylation in neutrophils from patients with p67-phox-deficient chronic granulomatous disease [18].

Anatomical context of Granulomatous Disease, Chronic

• O2- production at 0.2 mM and 0.02 mM NADPH by lysates from the granulocytes of two patients with chronic granulomatous disease was similar to O2- production by control lysates [19].
• We generated transformed B lymphoblast cell lines from controls, from four patients with p47-phox-deficient chronic granulomatous disease, and from three parents [20].
• Sonicates from patients with chronic granulomatous disease (CGD) could not be activated by arachidonic acid in the cell-free system [21].
• Enhanced bactericidal activity of phagocytes from patients with chronic granulomatous disease in the presence of sulphisoxazole [2].
• Fibroblast nitroblue tetrazolium test and the in-utero diagnosis of chronic granulomatous disease [22].

Gene context of Granulomatous Disease, Chronic

• Although it has been found that this p40phox protein is defective in patients with chronic granulomatous disease (CGD) who lack p67phox, evidence to functionally relate it to the NADPH oxidase system has hitherto been lacking [23].
• Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease [24].
• X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase [25].
• Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1) [26].
• We used mice lacking the gp91 subunit of NADPH oxidase [chronic granulomatous disease (CGD) mice] to assess the hypothesis that NADPH oxidase is a PA O2-sensor [27].

Analytical, diagnostic and therapeutic context of Granulomatous Disease, Chronic

• CONCLUSIONS: Nonmyeloablative conditioning followed by a T-cell-depleted hematopoietic stem-cell allograft is a feasible option for patients with chronic granulomatous disease, recurrent life-threatening infections, and an HLA-identical family donor [6].
• Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease [28].
• Characterization of the p67phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease [29].
• Analysis of potentiometric titrations of the cytochrome b-245 from a X+ chronic granulomatous disease patient with an Arg54 --> Ser mutation in gp91phox indicates that the mutant form of the cytochrome contains two nonidentical hemes with midpoint potentials of Em7 = -220 and Em7 = -300 mV [30].
• Risk factors for invasive aspergillosis include prolonged and severe neutropenia, hematopoietic stem cell and solid organ transplantation, advanced AIDS, and chronic granulomatous disease [31].

References