P095 Consequences of an IL2RA locus duplication in a very early onset inflammatory bowel disease patient
نویسندگان
چکیده
منابع مشابه
Linkage of Parkinson’s disease in two very early onset siblings to a locus on chromosome 1
Parkinson’s disease (PD) is a prevalent neurodegenerative disease that usually affects individuals over 50 years of age. Age at onset in a small subset of PD cases is considerably lower, and these are considered early-onset PD (EOPD) patients. Most PD cases appear sporadic, but approximately 15% are familial, and some of the familial cases exhibit Mendelian inheritance. Genetic analysis of fami...
متن کاملlinkage of parkinson’s disease in two very early onset siblings to a locus on chromosome 1
parkinson’s disease (pd) is a prevalent neurodegenerative disease that usually affects individuals over 50 years of age. age at onset in a small subset of pd cases is considerably lower, and these are considered early-onset pd (eopd) patients. most pd cases appear sporadic, but approximately 15% are familial, and some of the familial cases exhibit mendelian inheritance. genetic analysis of fami...
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Results From a 53-patient cohort, nine presented a SGE (17%). From these, disease onset median age was 1.0 months (0-12); one patient deceased (22 months) from a nongastrointestinal event. Compound heterozygote mutations were found in 7/8, being Val377Ile the commonest (6/8). The main symptoms during febrile attacks were: diarrhoea (100%, 7/7), lymphadenopathy (89.9%, 8/9), skin lesions, joint ...
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Elderly-onset inflammatory bowel disease (IBD) will be seen more frequently with the ageing of the population and the increasing incidence of IBD. However, knowledge regarding the best approach to IBD in this population is scarce. Furthermore, differential diagnosis in elderly patients with diarrhoea, rectal blood loss or a changed defecation pattern is comprehensive and IBD is not always consi...
متن کاملDefects in NADPH Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease
BACKGROUND & AIMS Defects in intestinal innate defense systems predispose patients to inflammatory bowel disease (IBD). Reactive oxygen species (ROS) generated by nicotinamide-adenine dinucleotide phosphate (NADPH) oxidases in the mucosal barrier maintain gut homeostasis and defend against pathogenic attack. We hypothesized that molecular genetic defects in intestinal NADPH oxidases might be pr...
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ژورنال
عنوان ژورنال: Journal of Crohn's and Colitis
سال: 2018
ISSN: 1873-9946,1876-4479
DOI: 10.1093/ecco-jcc/jjx180.222