A novel mutation in NCF2 resulting in very-early-onset colitis and juvenile idiopathic arthritis in a patient with chronic granulomatous disease
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چکیده
منابع مشابه
R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis
Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and sec...
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chronic granulomatous disease (cgd) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (nadph) oxidase complex. this complex is composed of membrane-bound gp91- phox and p22- phox subunits, and cytosolic subunits consisting of p47- phox , p67- phox , and p40- phox . a mutation in cybb gene encoding gp91- ph...
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Background: A common type of chronic arthritis in children and adolescents is juvenile idiopathic arthritis (JIA).According to the International League of Associations for Rheumatology (ILAR) classification, JIA diagnostic criteria include age under 16 years and disease duration of six-weeks. Based on the number of involved joints in the first sixmonths of disease onset, JIA is categorized into...
متن کاملA New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...
متن کاملChronic granulomatous disease associated with systemic lupus erythematosus and systemic onset juvenile idiopathic arthritis
Introduction Chronic granulomatous disease (CGD) is a primary immune deficiency that characterized with recurrent infections and granuloma formation. A variety of autoimmune disorders and immune-mediated phenomena such as inflammatory bowel disease, discoid lupus erythematous, juvenile idiopathic arthritis, Ig A nephropathy, sarcoidosis, rheumatoid arthritis, idiopathic thrombocytopenia, eosino...
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ژورنال
عنوان ژورنال: Allergy, Asthma & Clinical Immunology
سال: 2019
ISSN: 1710-1492
DOI: 10.1186/s13223-019-0386-6