2019
DOI: 10.1007/s10875-019-00673-w
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RNASEH2B Related Adult-Onset Interferonopathy

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Cited by 7 publications
(4 citation statements)
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“…We draw attention to the fact that while variable expression is well recognized in AGS inherited in an autosomal recessive manner, the rate of clinical non-penetrance in such cases is unknown — because asymptomatic siblings are not typically genotyped. In this regard, we note the report of a woman first developing cutaneous features at the age of 19 years and demonstrating no abnormal neurological features at the age of 32 years in the context of a biallelic p.Ala177Thr mutation in RNase H2b 92 . Broadly speaking, given intrafamilial and interfamilial discrepancies related to the same mutation, such differences in penetrance (and expression) must relate to other factors, genetic or environmental.…”
Section: Phenotypes Expression and Penetrancementioning
confidence: 71%
“…We draw attention to the fact that while variable expression is well recognized in AGS inherited in an autosomal recessive manner, the rate of clinical non-penetrance in such cases is unknown — because asymptomatic siblings are not typically genotyped. In this regard, we note the report of a woman first developing cutaneous features at the age of 19 years and demonstrating no abnormal neurological features at the age of 32 years in the context of a biallelic p.Ala177Thr mutation in RNase H2b 92 . Broadly speaking, given intrafamilial and interfamilial discrepancies related to the same mutation, such differences in penetrance (and expression) must relate to other factors, genetic or environmental.…”
Section: Phenotypes Expression and Penetrancementioning
confidence: 71%
“…Patients may also develop signs of autoimmunity, including cytopenia, autoantibodies, arthritis, and peripheral vasculitis (35). AGS is a genetically heterogeneous disease caused by biallelic LoF mutations in genes involved in nucleic acid metabolism, including TREX1 (32, 33), RNASEH2A, RNASEH2B, RNASEH2C (23,32,34), SAMHD1 (32,133,134), and ADAR (32,134), or by a monoallelic GoF mutation in the dsRNA sensor IFIH1/MDA5 (25,32). Defects in these nucleases, nucleic acid modifiers, and sensors result in inappropriate activation of the IFN-I pathways.…”
Section: Aicardi-goutières Syndromementioning
confidence: 99%
“…An adult patient has been reported to present with RNASEH2B-related Raynaud phenomenon and digital ischemia associated with arthralgia and myalgia. 68 Other adult patients may have been misdiagnosed with cerebral palsy in childhood, with a seemingly static disease course from infancy, in whom the presence of chilblains may be an important clue leading to the diagnosis of AGS. 69 Janus kinase (JAK)-inhibition, and more specifically inhibition of JAK1 and JAK2, has become the mainstay of treatment of Aicardi-Goutières syndrome and other type I interferonopathies.…”
Section: Retinal Vasculopathy With Cerebral Leukodystrophy (Rvcl) Is An Adult-onset Interferonopathy Caused By Heterozygous Frameshift Mumentioning
confidence: 99%