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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]
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 ...
Granuloma annulare is a skin disease of unknown cause in which granulomas are found in the dermis of the skin, but it is not a true granuloma. Typically, a central zone of necrobiotic generation of collagen is seen, with surrounding inflammation and mucin deposition on pathology.
Eosinophilic granulomatosis with polyangiitis consists of three stages, but not all patients develop all three stages or progress from one stage to the next in the same order; [7] whereas some patients may develop severe or life-threatening complications such as gastrointestinal involvement and heart disease, some patients are only mildly affected, e.g. with skin lesions and nasal polyps. [8]
Lymphomatoid granulomatosis (LYG or LG) is a very rare lymphoproliferative disorder first characterized in 1972. [1] Lymphomatoid means lymphoma-like and granulomatosis denotes the microscopic characteristic of the presence of granulomas with polymorphic lymphoid infiltrates and focal necrosis within it.
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 ...
Hugot et al. found a susceptibility locus for Crohn disease, a granulomatous inflammation of the bowel, on chromosome 16 close to the locus for BS. Based on the above information Blau suggested in 1998 that the genetic defect in Blau syndrome and Crohn disease might be the same or similar.
Giant cell arteritis is most prevalent in older individuals, with the rate of disease being seen to increase from age 50. Women are 2–3 times more likely to develop the disease than men. Northern Europeans have been observed to have a higher incidence of giant cell arteritis compared to southern European, Hispanic, and Asian populations.