We reported a patient with autoimmunity (multiple sclerosis), immunodeficiency (hypogammaglobulinemia with severe infections), enteropathy (diarrhea with intestinal inflammation), splenomegaly, lymphadenopathy and lymphocytic infiltration of non-lymphoid organs (lung, gut and brain). The patient was found ...
Multiple sclerosis: Single mutation associated with familial progressive MSA recent study by Wang et al. (2016a) claims that the low-frequency variant NR1H3 p.Arg415Gln is sufficient to cause multiple sclerosis in certain individuals and determines a patient's likelihood of primary progressive ...
Multiple sclerosis (MS) is a neuro-inflammatory and neurodegenerative disease that is most prevalent in Northern Europe. Although it is known that inherited risk for MS is located within or in close proximity to immune-related genes, it is unknown when, where and how this genetic risk originated...
Multiple sclerosis is a common multifactorial disease in which the etiology of the interaction between external factors and structural specificities of a large number of genes plays an important role. Identification of the risk factors for multiple sclerosis and the development of an integrated pathogenes...
Genetic confirmation for spastin gene mutation has been completed. If this coexistence is not coincidence the mutation in the spastin gene may be a strong susceptibility locus for MS. 展开 关键词: hereditary spastic paraparesis multiple sclerosis spastin Neurosurgery Neuroscience ...
51. Warshawsky I, Rudick RA, Staugaitis SM, Natowicz MR: Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation. Ann Neurol 2005, 58:470-3. 52. Cao L, Sun D, Whitaker JN: Citrullinated myelin basic protein induces experimental autoimmune encephalomyelitis in Lewis ...
A mutation in the IL7Rα locus has been identified as a risk factor for multiple sclerosis (MS), a neurodegenerative autoimmune disease characterized by inflammation, demyelination, and axonal damage. IL7Rα has well documented roles in lymphocyte development and homeostasis, but its involvement in ...
Multiple sclerosis (MS) is a neurodegenerative disorder caused by the immune system mistakenly attacking the myelin sheath, a protective coating around nerve fibers. This results in inflammation, which further damages the myelin sheath, as well as the nerve cells themselves and the cells that ...
Multiple Sclerosis, Allied Central Nervous System Diseases, and Immune-Mediated Neuropathies 来自 Elsevier 喜欢 0 阅读量: 26 作者: BGW Arnason 摘要: chapter 15 - multiple sclerosis, allied central nervous system diseases, and immune-mediated neuropathies ...
Jacobsen M, Schweer D, Ziegler A, Gaber R, Schock S, Schwinzer R, Wonigeit K, Lindert R-B, Kantarci O, Schaefer-Klein J, Schipper HI, Oertel WH, Heidenreich F, Weinschenker BG, Sommer N, Hemmer B. A point mutation inPTPRCis associated with the development of multiple sclerosis. ...