Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There has been rapid progress in the understanding of the protective mechanism against infection during the past decade. We reviewed the genetic susceptibility in familial or recurrent encephalitis/encephalopathy and subacute sclerosing panencephalitis (SSPE). Recessive mutation of UNC-93B1 and dominant mutation of TLR3 were associated with herpes simplex encephalitis (HSE). Those mutations impair the dsRNA-induced IFN-alpha/beta and IFN-lambda production and predispose to HSE. Dominant mutation of RANBP2 (encoding a nuclear pore protein) was detected in familial or recurrent patients with acute necrotizing encephalopathy. Polymorphisms of MxA, IL-4, IRF1, TLR3, PD1 and TLR3 are probably associated with the development of SSPE. Identification of causing or predisposing genes would enable the early diagnosis and the establishment of effective protection or treatment.
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PMID:[Genetic susceptibility to virus associated encephalitis or encephalopathy]. 2140 Aug 55

Immune checkpoint inhibitors are a novel group of immunotherapeutic agents for the treatment of cancer. Immune-related adverse events, including neurological symptoms, have been associated with these agents. We present the case of an adolescent with refractory Hodgkin lymphoma treated with nivolumab, a PD1 inhibitor, who developed Hashimoto thyroiditis, posterior reversible encephalopathy syndrome causing seizures, as well as urinary retention, truncal/appendicular spasticity, dysphagia, and a progressive encephalopathy that was clinically consistent with a diagnosis of progressive encephalopathy with rigidity and myoclonus, a stiff-person-syndrome spectrum disorder. He showed response and ultimately full recovery to a combination of intravenous steroids, intravenous immunoglobulin, and plasma exchange. To our knowledge, this is the first documented report of an immune-related neurological reaction to nivolumab in an adolescent patient and expands the spectrum of known nivolumab-associated toxicities.
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PMID:Immune-related Neurological Symptoms in an Adolescent Patient Receiving the Checkpoint Inhibitor Nivolumab. 2860 55