Results 21 to 30 of about 1,257,833 (338)
Nature Communications, 2018 Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency.
G. Arnadottir +34 more
semanticscholar +1 more source
Inherited p40phox deficiency differs from classic chronic granulomatous disease
Journal of Clinical Investigation, 2018 Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient patients from 12 additional families in 8 countries.
A. van de Geer +58 more
semanticscholar +1 more source
Hepatology, EarlyView., 2022 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
BCGiosis as a presenting feature of a child with chronic granulomatous disease
Brazilian Journal of Infectious Diseases, 2011 Bacillus Calmette Guerin (BCG) vaccine, which is administered to all newborns in some regions, could lead to serious complication ranging from local disease (known as BCGitis) to disseminated disease (BCGosis) in a group of patients with primary ...
Zahra Movahedi +3 more
doaj +1 more source
Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease
Journal of the Pediatric Infectious Diseases Society, 2018 Chronic Granulomatous Disease is one of the classic primary immunodeficiencies of childhood. While the incidence and severity of bacterial and fungal infections have been greatly reduced in this patient population, much remains to be learned about the ...
N L Rider, M B Jameson, C. B. Creech
semanticscholar +1 more source
Emerging Infectious Diseases, 2019 Granulibacter bethesdensis is a pathogen reported to cause recurrent lymphadenitis exclusively in persons with chronic granulomatous disease. We report a case of fatal meningitis caused by a highly virulent G.
Mafalda Rebelo +7 more
doaj +1 more source
Frontiers in Medicine, 2021 Uveitis associated with Vogt-Koyanagi-Harada (VKH) disease is a bilateral, chronic, granulomatous autoimmune disease associated with vitiligo, poliosis, alopecia, and meningeal and auditory manifestations.
Ahmed M. Abu El-Asrar +4 more
doaj +1 more source
Noninfectious Manifestations and Complications of Chronic Granulomatous Disease
Journal of the Pediatric Infectious Diseases Society, 2018 Chronic granulomatous disease (CGD), a primary immunodeficiency characterized by a deficient neutrophil oxidative burst and the inadequate killing of microbes, is well known to cause a significantly increased risk of invasive infection.
S. Henrickson +4 more
semanticscholar +1 more source
Chronic granulomatous disease: why an inflammatory disease?
Brazilian Journal of Medical and Biological Research, 2014 Chronic granulomatous disease is a primary immunodeficiency caused by mutations in the genes encoding subunits of the phagocytic NADPH oxidase system. Patients can present with severe, recurrent infections and noninfectious conditions.
P. Roxo-Junior, H.M.L. Simão
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Pediatric Allergy and Immunology, 2019 Chronic granulomatous disease (CGD) is a rare disease in China, and very little large‐scale studies have been conducted to date. We aimed to investigate the clinical and genetic features of CGD in Chinese pediatric patients.
Li-Wei Gao +14 more
semanticscholar +1 more source