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Chronic granulomatous disease (CGD) is the most common symptomatic phagocytic defect. It is caused by mutations in genes encoding protein subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. CGD is characterized by a defective intracellular killing of phagocytosed organisms due to a defective oxidative burst in the ...
A. Rawat, S. Bhattad, Surjit Singh
semanticscholar +4 more sources
Chronic granulomatous disease (CGD) was first described in the 1950s and has become a paradigm for genetic neutrophil diseases. It is characterized by recurrent infections with a narrow spectrum of bacteria and fungi as well as a common set of inflammatory complications most notably including inflammatory bowel disease. Over the last half century major
Paolo Puccetti+2 more
openaire +7 more sources
Subglottic stenosis (SGS) is a recurrent, obstructive, fibroinflammatory disease of the upper airway resulting in severe dyspnea, dysphonia, as well as other potentially fatal complications.
Hoang C. B. Nguyen+6 more
doaj +1 more source
Improvement of granulomatous skin conditions with tofacitinib in three patients: A case report
Granulomatous skin conditions are poorly understood inflammatory skin diseases consisting predominantly of macrophages. Granuloma annulare (GA) is the most common granulomatous skin disease and the generalized variant is particularly difficult to treat ...
Meghan L McPhie+2 more
doaj +1 more source
In situ PCR for Mycobacterium tuberculosis in endoscopic mucosal biopsy specimens of intestinal tuberculosis and Crohn disease [PDF]
Tuberculosis and Crohn disease are granulomatous disorders affecting the intestinal tract with similar clinical manifestations and pathologic features.
Donoghue, HD+3 more
core +1 more source
Idiopathic Granulomatous Mastitis: A Clinical Puzzle in Breast Lump Cases [PDF]
Idiopathic granulomatous mastitis (IGM) is a rare benign disease, characterized by chronic inflammation and granulomatous disease process. A middle aged lady with breast lump for six months with equivocal mammographic and ultrasound results underwent ...
Vivek G Nath+4 more
doaj +1 more source
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan+19 more
wiley +1 more source
Clinical observation of Сhronic granulomatous disease in a 6-year-old child
Chronic granulomatous disease (CGD) is a hereditary disease caused by a genetic defect of violations of oxygen — dependent mechanisms of phagocytosis.
G. A. Kharchenko, O. G. Kimirilova
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Lacrimal gland tumors in Turkey: types, frequency, and outcomes. [PDF]
AIM: To evaluate the clinical, radiological, and treatment features of lacrimal gland tumors. METHODS: Retrospective review of 99 eyes of 92 patients with lacrimal gland tumors diagnosed and managed in a single institution between January 1999 and March ...
Erden, Esra+3 more
core +2 more sources
Metabolic Programming of Macrophages: Implications in the Pathogenesis of Granulomatous Disease
Metabolic reprogramming is rapidly gaining appreciation in the etiology of immune cell dysfunction in a variety of diseases. Tuberculosis, schistosomiasis, and sarcoidosis represent an important class of diseases characterized by the formation of ...
Jayne Louise Wilson+2 more
semanticscholar +1 more source