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Chronic granulomatous disease (CGD), also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome, [1] is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly the superoxide radical due to defective phagocyte NADPH oxidase) used to kill certain ingested pathogens. [2]
Absence of the XK protein is an X-linked disease. [3] Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis: the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease. As a result, an individual with one relatively small deletion may have both diseases. [4]
However, chronic granulomatous disease leads to inadequate H 2 O 2 production, while myeloperoxidase deficiency is characterized by a lack of myeloperoxidase to interact with present H 2 O 2. [ 1 ] [ 2 ] [ 3 ] [ 7 ] Testing with NADPH oxidase-specific assays can lead to positive results for chronic granulomatous disease and negative results for ...
The disease is still sometimes confused with lethal midline granuloma and lymphomatoid granulomatosis, both malignant lymphomas. [ 34 ] The full clinical picture was first presented by Friedrich Wegener (1907–1990), a German pathologist , in two reports in 1936 and 1939, leading to the eponymous name Wegener's granulomatosis or Wegener ...
Neutrophil oxidative burst test (or chronic granulomatous disease (CGD) test) is a measure of neutrophil oxidation and is a useful assay in the diagnosis of chronic granulomatous disease and is also a useful means to determine the overall metabolic integrity of phagocytosing neutrophils. The NADPH oxidase enzyme is missing in CGD. From total ...
Rhinoscleroma, is a chronic granulomatous bacterial disease of the nose that can sometimes infect the upper respiratory tract. [1] It most commonly affects the nasal cavity—the nose is involved in 95–100 per cent of cases—however, it can also affect the nasopharynx, larynx, trachea, and bronchi. Slightly more females than males are ...
The discovery that the gene defect in Blau syndrome involves the CARD15/NOD2 gene has sparked investigation into its function as part of the innate immune system. The innate immune system recognizes pathogen-associated molecular patterns, including bacterial polysaccharides such as muramyl dipeptide, via its pattern recognition receptors, such as NOD2, to induce signaling pathways that ...
Generalized granuloma annulare is a chronic granulomatous dermatosis that typically affects young adults' distal extremities and manifests as annular grouped papules. [2] On the trunk and extremities, numerous flesh-colored papules arranged in an annular pattern are the hallmark of generalized granuloma annulare. These lesions are frequently ...