Records 1-2 (of 2 Records) |
Query Trace: Protein S deficiency[original query] |
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Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. Danyel Lee et al. Science (New York, N.Y.) 2022 12 (6632) eabo3627
Multisystem inflammatory syndrome in children (MIS-C) is a severe complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that affects one in 10,000 infected children. MIS-C is reminiscent of Kawasaki disease and its etiology remains unknown. Lee et al. performed whole-exome and whole-genome sequencing on a cohort of MIS-C patients and uncovered autosomal-recessive deficiencies of OAS1, OAS2, or RNASEL in around 1% of the cohort. These genes are components of a signaling pathway that suppresses inflammation in double-stranded RNA–stimulated mononuclear phagocytes.
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Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review. Fetyan Saja, et al. Iranian journal of allergy, asthma, and immunology 2022 0 0. (2) 219-227 |
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